color vision defects

Summary

Summary: Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the OPSIN genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue.

Top Publications

  1. pmc The cone dysfunction syndromes
    M Michaelides
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 88:291-7. 2004
  2. ncbi Tilted disc syndrome and colour vision
    Marja Liisa Vuori
    Department of Ophthalmology, Turku University Hospital, Turku, Finland
    Acta Ophthalmol Scand 85:648-52. 2007
  3. ncbi Color vision: a sensitive indicator of exposure to neurotoxins
    F Gobba
    Dipartimento di Scienze Igienistiche, Microbiologiche e Biostatistiche, Universita di Modena e Reggio Emilia, Modena, Italy
    Neurotoxicology 21:857-62. 2000
  4. doi Color vision impairment in type 2 diabetes assessed by the D-15d test and the Cambridge Colour Test
    Claudia Feitosa-Santana
    Department of Psychology, University of Chicago, Chicago, IL, USA
    Ophthalmic Physiol Opt 30:717-23. 2010
  5. pmc A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
    Bo Chang
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Proc Natl Acad Sci U S A 106:19581-6. 2009
  6. ncbi Visual dysfunction in workers exposed to a mixture of organic solvents
    Yingyan Gong
    Department of Public Health, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo 060 8638, Japan
    Neurotoxicology 24:703-10. 2003
  7. pmc Gene therapy rescues cone function in congenital achromatopsia
    Andras M Komaromy
    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 19:2581-93. 2010
  8. ncbi Effects of maternal occupational exposure to organic solvents on offspring visual functioning: a prospective controlled study
    C Till
    Department of Psychology, University of Toronto, Toronto, Ontario, Canada M5S 3G3
    Teratology 64:134-41. 2001
  9. pmc Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Am J Hum Genet 85:240-7. 2009
  10. ncbi Progressive cone dystrophy associated with mutation in CNGB3
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 45:1975-82. 2004

Detail Information

Publications195 found, 100 shown here

  1. pmc The cone dysfunction syndromes
    M Michaelides
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EL, UK
    Br J Ophthalmol 88:291-7. 2004
    ..Disorders with a progressive cone dystrophy phenotype will not be discussed...
  2. ncbi Tilted disc syndrome and colour vision
    Marja Liisa Vuori
    Department of Ophthalmology, Turku University Hospital, Turku, Finland
    Acta Ophthalmol Scand 85:648-52. 2007
    ..To study colour vision in patients with tilted disc syndrome...
  3. ncbi Color vision: a sensitive indicator of exposure to neurotoxins
    F Gobba
    Dipartimento di Scienze Igienistiche, Microbiologiche e Biostatistiche, Universita di Modena e Reggio Emilia, Modena, Italy
    Neurotoxicology 21:857-62. 2000
    ....
  4. doi Color vision impairment in type 2 diabetes assessed by the D-15d test and the Cambridge Colour Test
    Claudia Feitosa-Santana
    Department of Psychology, University of Chicago, Chicago, IL, USA
    Ophthalmic Physiol Opt 30:717-23. 2010
    ..Considering the advantages of the CCT test compared to the D-15d test, further studies should attempt to verify and/or improve the efficiency of the CCT test...
  5. pmc A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene
    Bo Chang
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Proc Natl Acad Sci U S A 106:19581-6. 2009
    ..Moreover, we show that the spontaneous mouse mutant cpfl1 that features a lack of cone function and rapid degeneration of the cone photoreceptors represents a homologous mouse model for PDE6C associated achromatopsia...
  6. ncbi Visual dysfunction in workers exposed to a mixture of organic solvents
    Yingyan Gong
    Department of Public Health, Hokkaido University Graduate School of Medicine, North 15, West 7, Sapporo 060 8638, Japan
    Neurotoxicology 24:703-10. 2003
    ..The results suppose that a low concentration of the mixed organic solvents might affect the retina and optic nerve. However, it needs to be further researched if such an impact affects the Brodmann's areas of visual cortex in the brain...
  7. pmc Gene therapy rescues cone function in congenital achromatopsia
    Andras M Komaromy
    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 19:2581-93. 2010
    ..Our results hold promise for future clinical trials of cone-directed gene therapy in achromatopsia and other cone-specific disorders...
  8. ncbi Effects of maternal occupational exposure to organic solvents on offspring visual functioning: a prospective controlled study
    C Till
    Department of Psychology, University of Toronto, Toronto, Ontario, Canada M5S 3G3
    Teratology 64:134-41. 2001
    ..The importance of routine visual function screening in risk assessment after prenatal exposure to chemicals warrants further attention...
  9. pmc Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Am J Hum Genet 85:240-7. 2009
    ..Our findings identify PDE6C as a gene for cone photoreceptor disorders and show that arCD and ACHM constitute genetically and clinically overlapping phenotypes...
  10. ncbi Progressive cone dystrophy associated with mutation in CNGB3
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 45:1975-82. 2004
    ..To determine the molecular basis for phenotypic variability in a three-generation consanguineous family containing a single individual with complete achromatopsia and three individuals with progressive cone dystrophy...
  11. ncbi A table of color distance scores for quantitative scoring of the Lanthony Desaturate color vision test
    A M Geller
    Neurotoxicology Division, National Health and Environmental Effects Research Laboratory, Office of Research and Development, U S Environmental Protection Agency, MD 74B, 27711, Research Triangle Park, NC, USA
    Neurotoxicol Teratol 23:265-7. 2001
    ..Data analysis programs using SAS or Matlab are available from the author...
  12. ncbi Male prevalence of acquired color vision defects in asymptomatic carriers of Leber's hereditary optic neuropathy
    Dora Fix Ventura
    Department of Experimental Psychology, University of Sao Paulo, Sao Paulo, Brazil
    Invest Ophthalmol Vis Sci 48:2362-70. 2007
    ..However, only a subset of the mutation carriers becomes affected, with a higher penetrance in males. This study was conducted to investigate chromatic losses in asymptomatic carriers of the LHON mutation...
  13. ncbi Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Pharmacology, and Physiology and Program in Neuroscience, Washington State University, Pullman, Washington 99164 6520, USA
    J Biol Chem 278:34533-40. 2003
    ..Thus, achromatopsia may arise from a disturbance of cone CNG channel gating and permeation or from the absence of functional CNGB3 subunits...
  14. ncbi Colour vision defects in occupational chronic solvent encephalopathy
    Juha Päällysaho
    Brain and Work Research Centre, Finnish Institute of Occupational Health, Topeliuksenkatu 41 aA, FIN 00250, Helsinki, Finland
    Hum Exp Toxicol 26:375-83. 2007
    ..This may indicate toxic damage to higher level visual processing, possibly the colour selective regions of the cerebral cortex...
  15. ncbi Transmembrane S1 mutations in CNGA3 from achromatopsia 2 patients cause loss of function and impaired cellular trafficking of the cone CNG channel
    Kirti A Patel
    Center for Biotechnology, Temple University, Philadelphia, Pennsylvania 19122, USA
    Invest Ophthalmol Vis Sci 46:2282-90. 2005
    ..Examination of mutations that cluster in the first transmembrane segment of the protein may provide insight into its role in CNG channel structure, function, biogenesis, and pathophysiology...
  16. ncbi Cumulative exposure to styrene and visual functions
    L Castillo
    , , , , Canada
    Am J Ind Med 39:351-60. 2001
    ..05). CONCLUSIONS: These findings suggest that CS loss increases with long-term cumulative exposure, reflecting chronic damage to the neuro-optic pathways...
  17. doi Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia
    Peggy Reuter
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Hum Mutat 29:1228-36. 2008
    ..In addition, this study presents the positive effect of reduced cell culture temperature on surface expression and functional performance of mutant CNG channels with protein folding or trafficking defects...
  18. pmc In vivo imaging of the photoreceptor mosaic of a rod monochromat
    Joseph Carroll
    Department of Ophthalmology, Medical College of Wisconsin, The Eye Institute, 925 North 87th Street, Milwaukee, WI 53226, USA
    Vision Res 48:2564-8. 2008
    ....
  19. pmc The effect of cone opsin mutations on retinal structure and the integrity of the photoreceptor mosaic
    Joseph Carroll
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    Invest Ophthalmol Vis Sci 53:8006-15. 2012
    ..To evaluate retinal structure and photoreceptor mosaic integrity in subjects with OPN1LW and OPN1MW mutations...
  20. ncbi Estimates of L:M cone ratio from ERG flicker photometry and genetics
    Joseph Carroll
    Department of Cell Biology, Neurobiology and Anatomy, Medical College of Wisconsin, Milwaukee, WI, USA
    J Vis 2:531-42. 2002
    ..Consistent with this possibility, extreme cone contribution ratios were found to be associated with atypical L-pigment amino acid combinations...
  21. ncbi Pilot study on prevalence of color vision dysfunction in long-term solvent-exposed painters
    Andreas Ihrig
    Institute and Policlinic of Occupational and Social Medicine, University Hospital Heidelberg, Germany
    Ind Health 41:39-42. 2003
    ..The results of the Q18 did also not correlate significantly with the exposure indices. We recommend further studies to explore if the color confusion index is an appropriate indicator of early neurotoxic effects in painters...
  22. ncbi Evolution of color vision loss induced by occupational exposure to chemicals
    F Gobba
    Dipartimento di Scienze Igienistiche, Universita di Modena e Reggio Emilia, Modena, Italy
    Neurotoxicology 21:777-81. 2000
    ..D-15 d proved a useful test for studies on the evolution of color perception in workers exposed to eye-toxic chemicals...
  23. ncbi Color vision and occupational chemical exposures: I. An overview of tests and effects
    Anders Iregren
    National Institute for Working Life, SE 112 79 Stockholm, Sweden
    Neurotoxicology 23:719-33. 2002
    ..g. exposure to toluene for a few hours or acute alcohol intake, seem to affect color perception. Follow-up studies are needed to investigate the possible reversibility of effects in relation to discontinued or reduced exposures...
  24. ncbi Acquired dyschromatopsia among petrochemical industry workers exposed to benzene
    Eun Hee Lee
    Department of Environmental Health, School of Public Health, Seoul National University, 28 YeonKeon Dong, Jongro Gu, Seoul 110 799, Republic of Korea
    Neurotoxicology 28:356-63. 2007
    ..Taken together, these results suggest that chronic low-level exposure to benzene can lead to acquired dyschromatopsia...
  25. pmc Variety of genotypes in males diagnosed as dichromatic on a conventional clinical anomaloscope
    Maureen Neitz
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee 53226 4812, USA
    Vis Neurosci 21:205-16. 2004
    ....
  26. pmc Photoreceptor structure and function in patients with congenital achromatopsia
    Mohamed A Genead
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA
    Invest Ophthalmol Vis Sci 52:7298-308. 2011
    ..To assess photoreceptor structure and function in patients with congenital achromatopsia...
  27. ncbi Impairments of colour vision induced by organic solvents: a meta-analysis study
    Galina V Paramei
    Institute of Medical Psychology, Otto von Guericke University of Magdeburg, Leipziger Strasse 44, 39120 Magdeburg, Germany
    Neurotoxicology 25:803-16. 2004
    ..Those factors vary considerably among the studies and might have greatly contributed to divergence in measured colour vision capacity, thereby obscuring consistent effects of organic solvents on colour discrimination...
  28. doi Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel
    Katja Koeppen
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Tuebingen, Germany
    Hum Mutat 31:830-9. 2010
    ....
  29. ncbi Impairment of colour vision in patients with n-hexane exposure-dependent toxic polyneuropathy
    H Issever
    Istanbul Medical Faculty, Department of Public Health, 34390 Capa Istanbul
    Occup Med (Lond) 52:183-6. 2002
    ..These results may indicate a relationship between n-hexane exposure and development of defects in colour vision, and would support a recommendation for periodic assessment of workers exposed to n-hexane and chemically related solvents...
  30. pmc Achromatopsia as a potential candidate for gene therapy
    Ji Jing Pang
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Adv Exp Med Biol 664:639-46. 2010
    ..Using adeno-associated virus (AAV)-mediated gene therapy, we and others show that cone function can be restored in all three models. These data suggest that human achromatopsia may be a good candidate for corrective gene therapy...
  31. doi Variable retinal phenotypes caused by mutations in the X-linked photopigment gene array
    Liliana Mizrahi-Meissonnier
    Department of Ophthalmology, Hadassah Hebrew University Medical Center, Jerusalem, Israel
    Invest Ophthalmol Vis Sci 51:3884-92. 2010
    ..To examine the involvement of the long (L) and middle (M) wavelength-sensitive cone opsin genes in cone-dominated phenotypes...
  32. ncbi A locus for autosomal recessive achromatopsia on human chromosome 8q
    A Milunsky
    Center for Human Genetics and Department of Pediatrics, Boston University School of Medicine, MA 02118, USA
    Clin Genet 56:82-5. 1999
    ..We have mapped the locus in this disorder in this family to chromosome 8q. Available data now narrow the region containing the putative gene to 1.2 cM...
  33. pmc Deletion of the X-linked opsin gene array locus control region (LCR) results in disruption of the cone mosaic
    Joseph Carroll
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, WI 53226, United States
    Vision Res 50:1989-99. 2010
    ..This suggests that the absence of opsin in a subset of cones results in their early degeneration, with X-inactivation the likely mechanism underlying phenotypic variability in BCM carriers...
  34. pmc CNGA3 mutations in two United Arab Emirates families with achromatopsia
    Yachna Ahuja
    Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA
    Mol Vis 14:1293-7. 2008
    ..We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease...
  35. pmc Gene therapy for red-green colour blindness in adult primates
    Katherine Mancuso
    Department of Ophthalmology, Box 356485, University of Washington, 1959 North East Pacific Street, Seattle, Washington 98195, USA
    Nature 461:784-7. 2009
    ..Thus, trichromacy can arise from a single addition of a third cone class and it does not require an early developmental process. This provides a positive outlook for the potential of gene therapy to cure adult vision disorders...
  36. ncbi Molecular basis of an inherited form of incomplete achromatopsia
    Dimitri Tränkner
    Institut für Biologische Informationsverarbeitung, Forschungszentrum Julich, 52425 Julich, Germany
    J Neurosci 24:138-47. 2004
    ..We argue that these alterations are responsible for the perturbations in light sensitivity and synaptic transmission...
  37. pmc Is colour vision impairment associated with cognitive impairment in solvent exposed workers?
    F Dick
    Department of Environmental and Occupational Medicine, University of Aberdeen, UK
    Occup Environ Med 61:76-8. 2004
    ..To determine whether acquired colour vision deficits in solvent exposed individuals are associated with cognitive impairment...
  38. ncbi Genetic basis of total colourblindness among the Pingelapese islanders
    O H Sundin
    Laboratory of Developmental Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 25:289-93. 2000
    ..Combined with earlier findings, our results demonstrate that both alpha- and beta-subunits of the cGMP-gated channel are essential for phototransduction in all three classes of cones...
  39. ncbi AcrySof Natural SN60AT versus AcrySof SA60AT intraocular lens in patients with color vision defects
    Shetal M Raj
    Iladevi Cataract and IOL Research Centre, Raghudeep Eye Clinic, Ahmedabad, India
    J Cataract Refract Surg 31:2324-8. 2005
    ..To determine whether implantation of the AcrySof Natural intraocular lens (IOL) worsened the severity of existing color deficit in congenital partial red-green color deficient individuals (CPRG)...
  40. doi Functional analysis of human CNGA3 mutations associated with colour blindness suggests impaired surface expression of channel mutants A3(R427C) and A3(R563C)
    Katja Koeppen
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Eur J Neurosci 27:2391-401. 2008
    ..Co-expression of A3(R427C) with the B3 subunit compensated for most of these aberrant properties, apart from the reduced cGMP maximum currents...
  41. ncbi Organization of the human trichromatic cone mosaic
    Heidi Hofer
    Center for Visual Science, University of Rochester, Rochester, New York 14627 0270, USA
    J Neurosci 25:9669-79. 2005
    ..Surprisingly, in the protan carrier, in which X-chromosome inactivation would favor L- or M-cone clumping, there was no evidence of clumping, perhaps as a result of cone migration during foveal development...
  42. ncbi Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Hum Mutat 25:248-58. 2005
    ..Based on our findings, CNGB3 should be considered as a candidate gene to be evaluated in patients with forms of cone dysfunction, including macular degeneration...
  43. ncbi A perspective on color vision in platyrrhine monkeys
    G H Jacobs
    Neuroscience Research Institute, University of California, Santa Barbara 93106, USA
    Vision Res 38:3307-13. 1998
    ..Examination of color vision, photopigments, and photopigment genes of all of these monkeys have stimulated a renewed interest in understanding the evolution of primate color vision...
  44. ncbi CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
    Eur J Hum Genet 13:302-8. 2005
    ..This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent...
  45. pmc Red-green color vision impairment in Duchenne muscular dystrophy
    Marcelo Fernandes Costa
    Departamento Psicologia Experimental, Universidade de Sao Paulo, Sao Paulo, Brazil
    Am J Hum Genet 80:1064-75. 2007
    ..001). In contrast, patients with DMD with deletion upstream of exon 30 had normal color vision. This color defect might be partially explained by a retina impairment related to dystrophin isoform Dp260...
  46. ncbi Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 121:433-9. 2007
    ..Furthermore, the CNGB3 mutation p.T383fsX is a predominant mutation, results from a founder effect, and is responsible for the ACHM in the original clinical report of UPD 14...
  47. pmc Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
    S Johnson
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    J Med Genet 41:e20. 2004
  48. doi High-resolution in vivo imaging in achromatopsia
    Mervyn G Thomas
    Ophthalmology Group, School of Medicine, University of Leicester, Leicester, United Kingdom
    Ophthalmology 118:882-7. 2011
    ..To characterize the retinal changes in patients with achromatopsia using an ultrahigh-resolution (UHR) spectral-domain optical coherence tomography (OCT) to examine how human achromatopsia corresponds to its animal model...
  49. ncbi Reorganization of human cortical maps caused by inherited photoreceptor abnormalities
    Heidi A Baseler
    Department of Psychology, Stanford University, Stanford, California, USA
    Nat Neurosci 5:364-70. 2002
    ..The measurements trace a causal pathway that begins with a genetic anomaly that directly influences sensory cells and ultimately results in a substantial central reorganization...
  50. doi Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Invest Ophthalmol Vis Sci 51:5952-7. 2010
    ..Future implementation of this therapy in humans requires the presence of viable cone cells in the retina. In this study the presence of cone cells in ACHM was determined, as a function of age...
  51. ncbi Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK 2900 Hellerup, Denmark
    Invest Ophthalmol Vis Sci 45:4256-62. 2004
    ....
  52. ncbi Molecular genetics of inherited variation in human color vision
    J Nathans
    Science 232:203-10. 1986
    ..The observed genotypes appear to result from unequal recombination or gene conversion (or both). Together with chromosome mapping experiments, these data identify each of the cloned human visual pigment genes...
  53. doi Genetic etiology and clinical consequences of complete and incomplete achromatopsia
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Ophthalmology 116:1984-9.e1. 2009
    ..To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations, phenotype at diagnosis, and visual prognosis...
  54. ncbi Molecular genetics of color vision and color vision defects
    M Neitz
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee 53226 4812, USA
    Arch Ophthalmol 118:691-700. 2000
    ....
  55. doi Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Ophthalmology 117:825-30.e1. 2010
    ..To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the cause of progressive cone dystrophy (CD)...
  56. pmc Genetic heterogeneity among blue-cone monochromats
    J Nathans
    Howard Hughes Medical Institute, Department of Molecular Biology, Baltimore, MD
    Am J Hum Genet 53:987-1000. 1993
    ..The observed heterogeneity of genotypes points to the existence of multiple one- and two-step mutational pathways to blue-cone monochromacy...
  57. ncbi Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals
    M Michaelides
    Institute of Ophthalmology, University College London, London EC1V 9EL, UK
    Eye (Lond) 19:2-10. 2005
    ..To perform a detailed clinical and psychophysical assessment of the members of three British families affected with blue cone monochromatism (BCM), and to determine the molecular basis of disease in these families...
  58. ncbi S-cone ERGs elicited by a simple technique in normals and in tritanopes
    G Arden
    Department of Optometry and Visual Science, City University, London, UK
    Vision Res 39:641-50. 1999
    ..To measure changes in the relative spectral sensitivities of the dark adapted and light adapted ERG and thus to establish the possible contribution of rods to the 'blue cone' ERG elicited by flashes of blue light...
  59. ncbi Classification of Farnsworth-Munsell 100-hue test results in the early treatment diabetic retinopathy study
    Franca B Barton
    Maryland Medical Research Institute, 600 Wyndhurst Avenue, Baltimore, MD 21210, USA
    Am J Ophthalmol 138:119-24. 2004
    To classify and describe clinically meaningful classes of color vision defects using pretreatment Farnsworth-Munsell 100-hue results from the Early Treatment Diabetic Retinopathy Study (ETDRS) patients using standard statistical techniques...
  60. ncbi Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
    Satoshi Goto-Omoto
    Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
    Vis Neurosci 23:395-402. 2006
    ..The outcome suggests low frequency (7%, 1/14) of CNGA3 mutations in Japanese patients...
  61. ncbi Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
    S Kohl
    Molekulargenetisches Labor, Abteilung für Pathophysiologie des Sehens und Neuroophthalmologie, Universitäts Augenklinik Tübingen, Germany
    Nat Genet 19:257-9. 1998
    ....
  62. ncbi A new mechanism in blue cone monochromatism
    A S Ladekjaer-Mikkelsen
    Institute of Human Genetics, University of Aarhus, Denmark
    Hum Genet 98:403-8. 1996
    ..Here we describe a clinical case of BCM caused by a new mutation where exon 4 of an isolated red pigment gene has been deleted. The finding represents the first intragenic deletion yet described among red and green pigment genes...
  63. ncbi Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    S Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Hum Mol Genet 9:2107-16. 2000
    ..The 1148delC mutation was identified recurrently in several families, and in total was present on 11 of 22 disease chromosomes segregating in our families...
  64. ncbi Molecular genetics of human blue cone monochromacy
    J Nathans
    Department of Molecular Biology and Genetics, Wilmer Ophthalmologic Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205
    Science 245:831-8. 1989
    ....
  65. ncbi Red contact lenses for alleviation of photophobia in patients with cone disorders
    William L Park
    Lions Vision Research and Rehabilitation Center, Wilmer Ophthalmological Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    Am J Ophthalmol 137:774-5. 2004
    ..To describe the use of red contact lenses to alleviate photophobia in patients with cone disorders...
  66. ncbi Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel
    Sanae Muraki-Oda
    Department of Ophthalmology, Shiga University of Medical Science, Seta, Otsu 520 2192, Japan
    Biochem Biophys Res Commun 362:88-93. 2007
    ..These results suggest that the T565M and E593K mutations alter the apparent affinity for cGMP of the channels to cause cone dysfunction, resulting in rod monochromacy...
  67. ncbi Clinical features of achromatopsia in Swedish patients with defined genotypes
    Louise Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 23:109-20. 2002
    ..To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes...
  68. ncbi Restoration of cone vision in a mouse model of achromatopsia
    John J Alexander
    Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA
    Nat Med 13:685-7. 2007
    ..Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia...
  69. ncbi Clinical and genetic features of Hungarian achromatopsia patients
    Balazs Varsanyi
    Molecular Genetics Laboratory, University Eye Hospital, University of Tubingen, Tubingen, Germany
    Mol Vis 11:996-1001. 2005
    ..To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients...
  70. pmc Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)
    I A Aligianis
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 39:656-60. 2002
    ..To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis...
  71. ncbi A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate
    Cecilia V Rojas
    INTA, Universidad de Chile, Casilla 138 11, Santiago, Chile
    Eur J Hum Genet 10:638-42. 2002
    ..The severely truncated beta-subunit is likely to render a nonfunctional cone CNG channel and cause total colour blindness in this kindred...
  72. pmc Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)
    M Michaelides
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    Br J Ophthalmol 87:1317-20. 2003
    ..To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2...
  73. pmc Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Am J Hum Genet 71:422-5. 2002
    ..Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia...
  74. pmc Anomalous trichromats' judgments of surface color in natural scenes under different daylights
    Rigmor C Baraas
    Department of Optometry and Visual Science, Buskerud University College, Norway
    Vis Neurosci 23:629-35. 2006
    ..The results are considered in relation to the spectral coverage of cones, rod intrusion, and the characterization of anomalous trichromacy by the Rayleigh match...
  75. ncbi Color vision screening for individuals with intellectual disabilities: a comparison between the Neitz Test of Color Vision and Color Vision Testing Made Easy
    Carmen Barnhardt
    Southern California College of Optometry, Fullerton, California, USA
    Optometry 77:211-6. 2006
    ..e., mental retardation) and developmental delay...
  76. ncbi Color naming and categorization in inherited color vision deficiencies
    Valérie Bonnardel
    Division of Psychology, University of Sunderland, Sunderland, United Kingdom
    Vis Neurosci 23:637-43. 2006
    ..The categorization behaviors studied in this experiment seemed to rely more on learning factors, and may reveal little about CVD perceptual representation of colors...
  77. ncbi Novel form of a single X-linked visual pigment gene in a unique dichromatic color-vision defect
    Takaaki Hayashi
    Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
    Vis Neurosci 23:411-7. 2006
    ..The predicted lambdamax (541 to 546 nm) of the unique pigment was closer to the M than to the L pigment. Our outcome suggests that intragenic unequal crossing-over may have occurred between amino acid positions 279 and 283...
  78. ncbi A novel mutation in the short-wavelength-sensitive cone pigment gene associated with a tritan color vision defect
    Karen L Gunther
    Department of Ophthalmology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226 4812, USA
    Vis Neurosci 23:403-9. 2006
    ..the S cone opsin are rare and all that have been identified thus far are associated with inherited tritan color vision defects. Here we report the identification of a 30-year-old male who made errors on standard color vision tests ..
  79. ncbi Frequency of colour vision deficiencies in melanoma patients: results of a prospective comparative screening study with the Farnsworth panel D 15 test including 300 melanoma patients and 100 healthy controls
    Claudia Pföhler
    Department of Dermatology, The Saarland University Hospital bInstitute for Medical Biometry, Epidemiology and Medical Informatics, Homburg Saar, Germany
    Melanoma Res 16:413-21. 2006
    ..For the use of blue vision deficiency in melanoma patients without predisposing diseases, a diligent test performance and interpretation is very important...
  80. ncbi Evaluation of cerebral dyschromatopsia using color afterimage
    Shinichi Koyama
    Department of Neurology, Showa University School of Medicine, Japan
    Neuroreport 17:109-13. 2006
    ..On the other hand, the patient performed normally on the Farnsworth-Maunsell 100 Hue Test. We conclude that the color afterimage test would be useful to evaluate color perception in the brain...
  81. ncbi A low-power, LED-based, high-brightness anomaloscope
    Russell L Woods
    The Schepens Eye Research Institute and Harvard Medical School, Boston, MA, USA
    Vision Res 46:3775-81. 2006
    ..We used inexpensive, low-energy components to replicate an earlier instrument, getting a maximum retinal illuminance over 5.6 log Trolands...
  82. ncbi The new Richmond HRR pseudoisochromatic test for colour vision is better than the Ishihara test
    Barry L Cole
    Department of Optometry and Vision Sciences, The University of Melbourne, Vic, Australia
    Clin Exp Optom 89:73-80. 2006
    ..This study is a validation trial of the new test using a larger sample and different criteria of evaluation from those of the previously reported validation study...
  83. ncbi Color discrimination in carriers of color deficiency
    S M Hood
    Department of Experimental Psychology, University of Cambridge, Downing Street, Cambridge CB2 3EB, UK
    Vision Res 46:2894-900. 2006
    ..In future studies it will be necessary to consider separately the two types of heterozygote...
  84. ncbi Improvement in colour vision parameters following successful trabeculectomy
    Leopoldo Magacho
    Federal University of Goias, Goiania, Goias, Brazil
    Acta Ophthalmol Scand 84:201-5. 2006
    ..To determine whether colour vision improves following reduction of intraocular pressure (IOP) in glaucoma patients...
  85. ncbi Interactions between rod and L-cone signals in deuteranopes: gains and phases
    Bjørg Elisabeth Kilavik
    Department of Experimental Ophthalmology, University of Tübingen Eye Hospital, Tubingen, Germany
    Vis Neurosci 23:201-7. 2006
    ..But, literature data showed only partial additivity of the two, suggesting that different postreceptoral mechanisms are involved in the two tasks...
  86. ncbi The reliability of the Lanthony Desaturated D-15 test
    Gregory W Good
    The Ohio State University College of Optometry, Columbus, 43210, USA
    Optom Vis Sci 82:1054-9. 2005
    ..Desaturated Panel D-15 has been used to measure fine color discrimination for congenital and acquired color vision defects. This study investigated the test-retest reliability of the test using an intertest interval of ..
  87. ncbi Color space distortions in patients with type 2 diabetes mellitus
    Claudia Feitosa-Santana
    Depto Psicologia Experimental, Instituto de Psicologia, Universidade de Sao Paulo, Sao Paulo, Brasil
    Vis Neurosci 23:663-8. 2006
    ..Along with fundoscopy, individual color spaces may serve for monitoring early functional changes and thereby to support a treatment strategy...
  88. ncbi Latitude-of-birth and season-of-birth effects on human color vision in the Arctic
    Bruno Laeng
    Department of Psychology, University of Tromsø, N 9037 Tromsø, Norway
    Vision Res 47:1595-607. 2007
    ....
  89. pmc A study of unusual Rayleigh matches in deutan deficiency
    J L Barbur
    Applied Vision Research Centre, The Henry Wellcome Laboratories for Vision Sciences, City University, London, United Kingdom
    Vis Neurosci 25:507-16. 2008
    ..The model also predicts the "normal" matches made by some subjects that rely on two hybrid genes and therefore exhibit red-green thresholds outside the normal range, typical of mild deuteranomaly...
  90. doi Poorer color discrimination by females when tested with pseudoisochromatic plates containing vanishing designs on neutral backgrounds
    Rigmor C Baraas
    Department of Optometry and Visual Science, Buskerud University College, Kongsberg, Norway
    Vis Neurosci 25:501-5. 2008
    ..This result is considered in relation to reports of female carriers of color-vision deficiency having problems with the Ishihara test and of females having poorer color discrimination than males...
  91. doi The number of discernible colors perceived by dichromats in natural scenes and the effects of colored lenses
    João M M Linhares
    Department of Physics, Minho University, Campus de Gualtar, Braga, Portugal
    Vis Neurosci 25:493-9. 2008
    ....
  92. doi Irreversible color vision losses in patients with chronic mercury vapor intoxication
    Claudia Feitosa-Santana
    Núcleo de Neurociências e Comportamento, Universidade de Sao Paulo, Sao Paulo, Brazil
    Vis Neurosci 25:487-91. 2008
    ..These findings indicate that following a long-term occupational exposure to Hg vapor, even several years away from the source of intoxication, color vision impairment remains irreversible...
  93. doi Chromatic discrimination losses in multiple sclerosis patients with and without optic neuritis using the Cambridge Colour Test
    Ana Laura de Araújo Moura
    Depto Psicologia Experimental, Instituto de Psicologia, Universidade de Sao Paulo, Sao Paulo, Brasil
    Vis Neurosci 25:463-8. 2008
    ..The CCT is a useful tool to help characterize vision losses in MS, and the relationship between these losses and degree of optic nerve involvement...
  94. ncbi The multifocal pattern electroretinogram (mfPERG) and cone-isolating stimuli
    Hana Langrova
    University Eye Hospital, Hradec Kralove, Czech RepublicCenter for Ophthalmology, University of Tubingen, Germany
    Vis Neurosci 24:805-16. 2007
    ..29-2.78 in the periphery. The results indicate that a major gain adjustment of the retinal signals takes place at the ganglion cell level, and that the ratio is higher at eccentric locations than in the central retinal area...
  95. doi Errors reading the Ishihara pseudoisochromatic plates made by observers with normal colour vision
    Eriko Miyahara
    Department of Psychology, California State University, Fullerton, Fullerton, California 92834 6846, USA
    Clin Exp Optom 91:161-5. 2008
    ..The purpose of this study was to obtain results for normal trichromats reading the Ishihara plates and analyse the misreading responses to seek clinical implications...
  96. ncbi Abnormal colour vision is a handicap to playing cricket but not an insurmountable one
    Ross W Harris
    Department of Optometry and Vision Sciences and Victorian College of Optometry, The University of Melbourne, Australia
    Clin Exp Optom 90:451-6. 2007
    ....
  97. ncbi Can color vision defective subjects who pass the farnsworth lantern test recognize surface color codes?
    Barry L Cole
    Department of Optometry and Vision Sciences, University of Melbourne, Victoria, Australia
    Aviat Space Environ Med 78:21-5. 2007
    ..This study investigated whether people with defective color vision (DCV) who pass the Farnsworth lantern test can recognize the main colors used for surface color codes...
  98. ncbi The effect of test distance on the CN lantern results
    Jeffery K Hovis
    School of Optometry, University of Waterloo, Waterloo, ON, Canada
    Vis Neurosci 23:675-9. 2006
    ..This indicates that some color-defectives could work in the railway yards where the sighting distances for the signal lights are shorter than on the main track...
  99. ncbi An adaptation of the Cambridge Colour Test for use with animals
    Katherine Mancuso
    Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
    Vis Neurosci 23:695-701. 2006
    ..Repeated measurements were highly consistent. Thus, an adaptation of the Cambridge Colour Test provides a valid and reliable method for testing color vision in animals...
  100. ncbi Illuminant and observer metamerism and the Hardy-Rand-Rittler color vision test editions
    Stephen J Dain
    Optics and Radiometry Laboratory, School of Optometry and Vision Science, The University of New South Wales, Sydney, Australia
    Vis Neurosci 23:685-94. 2006
    ..As a consequence, the clinician needs to be less concerned about using a non-recommended source than was previously believed...
  101. ncbi Transient tritanopia in migraine: evidence for a large-field retinal abnormality in blue-yellow opponent pathways
    Marc S Tibber
    School of Psychology, Birkbeck College, University of London, London, United Kingdom
    Invest Ophthalmol Vis Sci 47:5125-31. 2006
    ..A group difference in the magnitude of TT would provide evidence for a retinal contribution to the S-cone-specific color-processing abnormalities that have been reported in migraine...

Research Grants97

  1. GENES AND VISUAL PIGMENTS OF RED GREEN COLOR VISION
    Maureen Neitz; Fiscal Year: 1999
    ..mechanisms play a role in altering the structure of the array; which alterations are associated with color vision defects and more serious vision disorders? How are individual differences in the amino acids of the opsins related ..
  2. Genetic Studies of Optic Atrophy
    Taosheng Huang; Fiscal Year: 2010
    ..This condition primarily affects eyes, and is characterized by gradual vision loss, color vision defects, and temporal optic pallor...
  3. GENES AND VISUAL PIGMENTS OF RED-GREEN COLOR VISION
    Maureen Neitz; Fiscal Year: 2004
    ..in cone pigments in vision disorders; b) the molecular basis for variation in the severity of protan color vision defects; and c) the molecular genetic basis for color vision loss in males with a very mild defect but with normal ..
  4. TESTS OF MODELS OF RETINAL DISEASE AND ADAPTATION
    Donald Hood; Fiscal Year: 1993
    ..monitor, we will develop psychophysical paradigms to test hypotheses about sites and mechanisms of foveal color vision defects found in patients with open-angle glaucoma...
  5. Assessing Photoreceptor Structure and Function in Normal and Diseased Retina
    Joseph Carroll; Fiscal Year: 2009
    ..The work in this proposal will serve as the foundation for translation of this same approach to the future study of other retinal degenerations, which will accelerate progress for the effective implementation of novel therapies. ..
  6. Assessing Photoreceptor Structure and Function in Normal and Diseased Retina
    Joseph Carroll; Fiscal Year: 2010
    ..The work in this proposal will serve as the foundation for translation of this same approach to the future study of other retinal degenerations, which will accelerate progress for the effective implementation of novel therapies. ..
  7. Assessing Photoreceptor Structure and Function in Normal and Diseased Retina
    Joseph Carroll; Fiscal Year: 2009
    ..The work in this proposal will serve as the foundation for translation of this same approach to the future study of other retinal degenerations, which will accelerate progress for the effective implementation of novel therapies. ..
  8. Organization of the Trichromatic Cone Mosaic
    Joseph Carroll; Fiscal Year: 2005
    ..The ratio of L to M cones in female carriers of color vision defects will be examined to help assess the role of X-inactivation in forming the cone mosaic...
  9. CENTRAL AND PERIPHERAL PROCESSES IN VISUAL ADAPTATION
    STEVEN SHEVELL; Fiscal Year: 2000
    ..A long-term goal of this research is to understand fully the neural processes mediating color and brightness perception of arbitrarily complex visual stimuli, and to develop tests to assess functioning of these neural mechanism. ..
  10. CENTRAL AND PERIPHERAL PROCESSES IN VISUAL ADAPTATION
    STEVEN SHEVELL; Fiscal Year: 2005
    ..A long-term goal of this research is to understand the many neural processes mediating color perception of complex visual stimuli, and to develop methods to assess the functioning of these neural mechanisms. ..
  11. CENTRAL AND PERIPHERAL PROCESSES IN VISUAL ADAPTATION
    Steven K Shevell; Fiscal Year: 2010
    ..Psychophysical measurements of color and brightness will test alternative theories. Quantitative modeling will incorporate characteristics of visual pathways from physiological studies. ..
  12. CENTRAL AND PERIPHERAL PROCESSES IN VISUAL ADAPTATION
    STEVEN SHEVELL; Fiscal Year: 2007
    ..Psychophysical measurements of color and brightness will test alternative theories. Quantitative modeling will incorporate characteristics of visual pathways from physiological studies. ..
  13. CENTRAL AND PERIPHERAL PROCESSES IN VISUAL ADAPTATION
    STEVEN SHEVELL; Fiscal Year: 1990
    ..This research will determine the extent to which functional luminance level can account for spatial and temporal deficits in amblyopia...
  14. CENTRAL AND PERIPHERAL PROCESSES IN VISUAL ADAPTATION
    STEVEN SHEVELL; Fiscal Year: 1993
    ..A long-term goal of this research is to provide sensitive and reliable psychophysical techniques to aid in the diagnosis of eye disorders...
  15. Can gene therapy expand sensory capacity in the adult?
    Maureen Neitz; Fiscal Year: 2004
    ..We will monitor color vision behavior both before and after subretinal injection to determine whether the animal's color vision changes from dichromatic to trichromatic. ..
  16. MOLECULAR GENETICS OF COLOR VISION
    Samir Deeb; Fiscal Year: 2003
    ..formation of hybrid genes (red-green and green-red) due to illegitimate recombination at this locus causes color vision defects. However, not all other gens of the red/green array are expressed in the retina, creating uncertainties in ..
  17. GENETICS & REGULATION OF HEPATIC LIPASE
    Samir Deeb; Fiscal Year: 2001
    ..This will open the door for novel pharmaceutical approaches that target modification of the lipoproteins. ..
  18. MOLECULAR GENETICS OF COLOR VISION
    Samir Deeb; Fiscal Year: 2007
    ..spectral variants of the long wave sensitive (L) and middle wave sensitive (M) pigments causing various color vision defects. Preliminary studies have shown that some women who carry three forms of the L and M pigment genes have ..
  19. MOLECULAR GENETICS OF COLOR VISION
    Samir S Deeb; Fiscal Year: 2010
    ..Selective Tr2 ligands could potentially be designed to correct abnormal phenotypes during retinal development. ..
  20. Adaptive Evolution of Color Vision
    Shozo Yokoyama; Fiscal Year: 2010
    ..abstract_text> ..
  21. Adaptive Evolution of Color Vision
    Shozo Yokoyama; Fiscal Year: 2009
    ..abstract_text> ..
  22. Achromatopsia - Disease Mechanisms and Cone-Directed Gene Therapy
    Andras Komaromy; Fiscal Year: 2010
    ..This research proposal focuses on the development of a new gene therapy to recover diseased cones and their function and to restore day-vision ..
  23. Genetics and Regulation of Hepatic Lipase
    Samir Deeb; Fiscal Year: 2005
    ..The genetic markers would be valuable in predicting cardiovascular risk as well as response to therapy. ..
  24. COLOR VISION MOLECULAR AND PSYCHOPHYICAL STUDIES
    Samir Deeb; Fiscal Year: 1999
    ..at the photopigment level and to correlate heterogeneity of molecular genotypes of X-linked red-green color vision defects with advanced phenotype measurements...
  25. EVOLUTIONARY GENETICS OF VERTEBRATE VISION
    Shozo Yokoyama; Fiscal Year: 2002
    ..abstract_text> ..
  26. Adaptive Evolution of Color Vision
    Shozo Yokoyama; Fiscal Year: 2007
    ....
  27. PSYCHOPHYSICAL STUDIES OF COLOR DEFECTIVE OBSERVERS
    Joel Pokorny; Fiscal Year: 2001
    ....