ocular albinism

Summary

Summary: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.

Top Publications

  1. Donatien P, Jeffery G. Correlation between rod photoreceptor numbers and levels of ocular pigmentation. Invest Ophthalmol Vis Sci. 2002;43:1198-203 pubmed
    ..Further, patterns of cell production and death were examined around the time of birth, when rod production peaks, to determine whether there are abnormalities in these features associated with hypopigmentation...
  2. Renugadevi K, Sil A, Perumalsamy V, Sundaresan P. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism. Mol Vis. 2010;16:1514-24 pubmed
    ..The purpose of this study was to screen known candidate genes for oculocutaneous albinism (OCA) and ocular albinism (OA) mutations in Indian patients.
  3. Meindl A, Hosenfeld D, Brückl W, Schuffenhauer S, Jenderny J, Bacskulin A, et al. Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. J Med Genet. 1993;30:838-42 pubmed
    ..describe the clinical symptoms of a patient with a complex syndrome compatible with all these conditions plus ocular albinism (OA1). He has a terminal Xp deletion of at least 10 Mb of DNA...
  4. Faugère V, Tuffery Giraud S, Hamel C, Claustres M. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay. BMC Genet. 2003;4:1 pubmed
    X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes...
  5. Käsmann Kellner B, Seitz B. [Phenotype of the visual system in oculocutaneous and ocular albinism]. Ophthalmologe. 2007;104:648-61 pubmed
    ..In a representative group of 506 persons with oculocutaneous and ocular albinism who are in care at the Department of Ophthalmology at the University of Saarland (UKS), we present a staging ..
  6. Vogel P, Read R, Vance R, Platt K, Troughton K, Rice D. Ocular albinism and hypopigmentation defects in Slc24a5-/- mice. Vet Pathol. 2008;45:264-79 pubmed publisher
    ..The severe hypopigmentation of neuroepithelium-derived cells in the eyes resulted in a novel form of ocular albinism in Slc24a5-/- mice...
  7. Newton J, Orlow S, Barsh G. Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. Genomics. 1996;37:219-25 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked human genetic disorder that affects retinal pigment cells and, to a lesser degree, neural crest-derived melanocytes...
  8. Oetting W, Pietsch J, Brott M, Savage S, Fryer J, Summers C, et al. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism. Am J Med Genet A. 2009;149A:466-9 pubmed publisher
    ..The Q402 allele has been associated with autosomal recessive ocular albinism when it is in trans with a tyrosinase gene mutation associated with oculocutaneous albinism type 1...
  9. Fang S, Guo X, Jia X, Xiao X, Li S, Zhang Q. Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism. Mol Vis. 2008;14:1974-82 pubmed
    There are few genetic studies and clinical descriptions of Asian patients with X-linked ocular albinism (OA1)...

More Information

Publications74

  1. Reichel M, Grix A, Isseroff R. Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus. Pediatr Dermatol. 1992;9:103-6 pubmed
    An 11-year-old boy had dyskeratosis congenita, elevated fetal hemoglobin level, X-linked ocular albinism, and juvenile-onset diabetes mellitus...
  2. Schiaffino M, Tacchetti C. The ocular albinism type 1 (OA1) protein and the evidence for an intracellular signal transduction system involved in melanosome biogenesis. Pigment Cell Res. 2005;18:227-33 pubmed
    b>Ocular albinism type 1 is an X-linked disorder characterized by severe reduction of visual acuity, retinal hypopigmentation, foveal hypoplasia, optic misrouting and the presence of giant melanosomes (macromelanosomes) in skin melanocytes ..
  3. Mayeur H, Roche O, Vêtu C, Jaliffa C, Marchant D, Dollfus H, et al. Eight previously unidentified mutations found in the OA1 ocular albinism gene. BMC Med Genet. 2006;7:41 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and ..
  4. Sone M, Orlow S. The ocular albinism type 1 gene product, OA1, spans intracellular membranes 7 times. Exp Eye Res. 2007;85:806-16 pubmed
    ..intracellular glycoprotein consisting of 404 amino acid residues that is mutated in patients with ocular albinism type 1, the most common form of ocular albinism...
  5. Hutton S, Spritz R. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008;49:868-72 pubmed publisher
    Autosomal recessive ocular albinism (AROA) is a group of genetic disorders in which reduced pigmentation of the eye is associated with decreased visual acuity, nystagmus, strabismus, and photophobia, although pigmentation of skin and ..
  6. Shen B, Samaraweera P, Rosenberg B, Orlow S. Ocular albinism type 1: more than meets the eye. Pigment Cell Res. 2001;14:243-8 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a severe reduction of visual acuity, and hypopigmentation of the retina that leads to nystagmus, strabismus, and photophobia/photodysphoria...
  7. Samaraweera P, Shen B, Newton J, Barsh G, Orlow S. The mouse ocular albinism 1 gene product is an endolysosomal protein. Exp Eye Res. 2001;72:319-29 pubmed
    To gain insight into the role of Oa1, the mouse homolog of the human X-linked ocular albinism 1 protein, its properties and subcellular localization were investigated...
  8. Surace E, Angeletti B, Ballabio A, Marigo V. Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. Invest Ophthalmol Vis Sci. 2000;41:4333-7 pubmed
    Mutations in the OA1 gene cause ocular albinism type 1 (OA1), an X-linked form of albinism affecting only the eye, with skin pigmentation appearing normal...
  9. Wang Y, Guo X, Wei A, Zhu W, Li W, Lian S. Identification of a novel mutation in a Chinese family with X-linked ocular albinism. Eur J Ophthalmol. 2009;19:124-8 pubmed
    The purpose of the study was to evaluate the GPR143 gene (G-protein coupled receptor 143) in a Chinese three-generation family with OA1, including four carriers and a proband with clinical features of X-linked ocular albinism.
  10. Schiaffino M, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, et al. The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Proc Natl Acad Sci U S A. 1996;93:9055-60 pubmed
    b>Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation...
  11. d Addio M, Pizzigoni A, Bassi M, Baschirotto C, Valetti C, Incerti B, et al. Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet. 2000;9:3011-8 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by a severe reduction of visual acuity, hypopigmentation of the retina and the presence of macromelanosomes in the skin and eyes...
  12. Fukai K, Holmes S, Lucchese N, Siu V, Weleber R, Schnur R, et al. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet. 1995;9:92-5 pubmed
    Autosomal recessive ocular albinism (AROA) is a disorder characterized by reduced pigmentation of the retina and iris, hypoplastic fovea, variably reduced visual acuity and nystagmus...
  13. Lee S, Nicholls R, Bundey S, Laxova R, Musarella M, Spritz R. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994;330:529-34 pubmed
    ..The P protein is a transmembrane polypeptide that may transport small molecules such as tyrosine, the precursor of melanin. The P gene is located in chromosome segment 15q11-q13...
  14. Schiaffino M, Bassi M, Galli L, Renieri A, Bruttini M, de Nigris F, et al. Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet. 1995;4:2319-25 pubmed
    The locus for ocular albinism type 1 (OA1) has been assigned to the Xp22.3 region through both linkage and deletion mapping...
  15. Bassi M, Incerti B, Easty D, Sviderskaya E, Ballabio A. Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Genome Res. 1996;6:880-5 pubmed
    We report the isolation of the mouse homolog of OA1, the gene responsible for ocular albinism type 1...
  16. Oetting W. New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Hum Mutat. 2002;19:85-92 pubmed
    ..Mutation and polymorphism data on this gene is available from the International Albinism Center - Albinism Database web site (http://www.cbc.umn.edu/tad)...
  17. Shen B, Orlow S. The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution. Pigment Cell Res. 2001;14:485-90 pubmed
    The ocular albinism type 1 (OA1) gene product is a membrane glycoprotein that may play a role in controlling melanosome growth and maturation...
  18. Chong G, Farsiu S, Freedman S, Sarin N, Koreishi A, Izatt J, et al. Abnormal foveal morphology in ocular albinism imaged with spectral-domain optical coherence tomography. Arch Ophthalmol. 2009;127:37-44 pubmed publisher
    ..To evaluate the spectrum of foveal architecture in pediatric albinism and to assess the utility of spectral-domain optical coherence tomography (OCT) in ocular imaging of children with nystagmus...
  19. Bassi M, Bergen A, Bitoun P, Charles S, Clementi M, Gosselin R, et al. Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Hum Genet. 2001;108:51-4 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by congenital nystagmus and photodysphoria, moderate to severe reduction of visual acuity, hypopigmentation of the retina, and the presence of macromelanosomes in ..
  20. Palmisano I, Bagnato P, Palmigiano A, Innamorati G, Rotondo G, Altimare D, et al. The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 2008;17:3487-501 pubmed publisher
    The protein product of the ocular albinism type 1 gene, named OA1, is a pigment cell-specific G protein-coupled receptor exclusively localized to intracellular organelles, namely lysosomes and melanosomes...
  21. Chiang P, Spector E, McGregor T. Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism. Am J Med Genet A. 2009;149A:2739-44 pubmed publisher
    ..The clinical presentation of WS is highly variable, and we believe that Tietz syndrome and WS2 with ocular albinism (OA) are likely two variations of WS2 due to the presence of modifiers...
  22. Sallmann G, Bray P, Rogers S, Quince A, Cotton R, Carden S. Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. Ophthalmic Genet. 2006;27:43-9 pubmed
    ..It has been postulated that CN may be a form of ocular albinism.
  23. Schiaffino M, d Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet. 1999;23:108-12 pubmed
    ..We provide here structural evidence that the protein product of the ocular albinism type 1 gene (OA1), a pigment cell-specific integral membrane glycoprotein, represents a novel member of the ..
  24. Camand O, Boutboul S, Arbogast L, Roche O, Sternberg C, Sutherland J, et al. Mutational analysis of the OA1 gene in ocular albinism. Ophthalmic Genet. 2003;24:167-73 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked disorder, mainly characterized by a severe reduction in visual acuity, foveal hypoplasia, nystagmus, hypopigmentation of the retina, the presence of macromelanosomes in the skin and eyes, and ..
  25. Micale L, Augello B, Fusco C, Turturo M, Granatiero M, Piemontese M, et al. GPR143 mutational analysis in two Italian families with X-linked ocular albinism. Genet Test Mol Biomarkers. 2009;13:527-31 pubmed publisher
    X-linked ocular albinism type 1 (OA1) is caused by mutations in G protein-coupled receptor 143 (GPR143) gene, which encodes a membrane glycoprotein localized to melanosomes...
  26. Cortese K, Giordano F, Surace E, Venturi C, Ballabio A, Tacchetti C, et al. The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci. 2005;46:4358-64 pubmed
    ..e., Tyrosinase and membrane-associated transporter protein [Matp]) to study the function of Oa1, the gene mutated in ocular albinism type 1, in the RPE during development and after birth.
  27. Bassi M, Schiaffino M, Renieri A, de Nigris F, Galli L, Bruttini M, et al. Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995;10:13-9 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe impairment of visual acuity, retinal hypopigmentation and the presence of macromelanosomes. We isolated a novel transcript from the OA1 critical region in Xp22...
  28. Surace E, Domenici L, Cortese K, Cotugno G, Di Vicino U, Venturi C, et al. Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Mol Ther. 2005;12:652-8 pubmed
    X-linked recessive ocular albinism type I (OA1) is due to mutations in the OA1 gene (approved gene symbol GPR143), which is expressed in the retinal pigment epithelium (RPE)...
  29. Schiaffino M, Bassi M, Rugarli E, Renieri A, Galli L, Ballabio A. Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Hum Mol Genet. 1995;4:373-82 pubmed
    b>Ocular albinism type 1 (OA1) is an X-linked recessive disorder characterized by a major impairment of visual acuity, nystagmus, strabismus, photophobia and retinal hypopigmentation...
  30. Wapenaar M, Bassi M, Schaefer L, Grillo A, Ferrero G, Chinault A, et al. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum Mol Genet. 1993;2:947-52 pubmed
    ..with deletions and translocations involving the Xp22 region to map the genes for two X-linked disorders, ocular albinism type 1 (OA1) and microphthalmia with linear skin defects (MLS)...
  31. Schnur R, Gao M, Wick P, Keller M, Benke P, Edwards M, et al. OA1 mutations and deletions in X-linked ocular albinism. Am J Hum Genet. 1998;62:800-9 pubmed
    X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by decreased ocular pigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity...
  32. Vetrini F, Tammaro R, Bondanza S, Surace E, Auricchio A, De Luca M, et al. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Hum Mutat. 2006;27:420-6 pubmed
    An intronic point mutation was identified in the ocular albinism type 1 (OA1) gene (HUGO symbol, GPR143) in a family with the X-linked form of ocular albinism...
  33. Shen B, Rosenberg B, Orlow S. Intracellular distribution and late endosomal effects of the ocular albinism type 1 gene product: consequences of disease-causing mutations and implications for melanosome biogenesis. Traffic. 2001;2:202-11 pubmed
    To investigate the function of ocular albinism type 1 (OA1), the gene responsible for X-linked ocular albinism, we employed a construct containing murine Oa1 fused to green fluorescent protein (GFP) in a heterologous COS cell expression ..
  34. Nusinowitz S, Sarraf D. Retinal function in X-linked ocular albinism (OA1). Curr Eye Res. 2008;33:789-803 pubmed publisher
    To characterize retinal function in human recessive X-linked ocular albinism (OA1) across the normal lifespan.
  35. Morell R, Spritz R, Ho L, Pierpont J, Guo W, Friedman T, et al. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet. 1997;6:659-64 pubmed
    ..Two previously described families seemed to delineate a new subtype characterized by WS2 in conjunction with ocular albinism (OA)...
  36. Xiao X, Zhang Q. Iris hyperpigmentation in a Chinese family with ocular albinism and the GPR143 mutation. Am J Med Genet A. 2009;149A:1786-8 pubmed publisher
    X-linked ocular albinism (OA1) is the most common form of ocular albinism...
  37. Iannaccone A, Gallaher K, Buchholz J, Jennings B, Neitz M, Sidjanin D. Identification of two novel mutations in families with X-linked ocular albinism. Mol Vis. 2007;13:1856-61 pubmed
    ..G-protein coupled receptor 143 (GPR143), in two United States families, one from the mid-west and one from the mid-south, who had clinical features of X-linked ocular albinism. Both families had previously tested negative for mutations.
  38. Rosenberg T, Schwartz M. X-linked ocular albinism: prevalence and mutations--a national study. Eur J Hum Genet. 1998;6:570-7 pubmed
    In a national retrospective register study 112 patients with ocular albinism (OA) were identified, including 60 male patients with proven or presumed X-linked ocular albinism (XLOA)...
  39. Incerti B, Cortese K, Pizzigoni A, Surace E, Varani S, Coppola M, et al. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum Mol Genet. 2000;9:2781-8 pubmed
    b>Ocular albinism type I (OA1) is an X-linked disorder characterized by severe reduction of visual acuity, strabismus, photophobia and nystagmus...
  40. Norman C, O Gorman L, Gibson J, Pengelly R, Baralle D, Ratnayaka J, et al. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B). Sci Rep. 2017;7:4415 pubmed publisher
    Oculocutaneous albinism (OCA) and ocular albinism (OA) are inherited disorders of melanin biosynthesis, resulting in loss of pigment and severe visual deficits...
  41. Marti A, Lasseaux E, Ezzedine K, Leaute Labreze C, Boralevi F, Paya C, et al. Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting. Pigment Cell Melanoma Res. 2017;: pubmed publisher
    ..The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable...
  42. Grant S, Waller W, Bhalla A, Kennard C. Normal chiasmatic routing of uncrossed projections from the ventrotemporal retina in albino Xenopus frogs. J Comp Neurol. 2003;458:425-39 pubmed
    ..Our findings suggest that congenital RPE melanin deficiency results in major defects in the development of the retina and its central projections only in mammals. ..
  43. Hoffmann M, Seufert P, Schmidtborn L. Perceptual relevance of abnormal visual field representations: static visual field perimetry in human albinism. Br J Ophthalmol. 2007;91:509-13 pubmed
    ..This contrasts with the selective visual field defects observed in some animal models of albinism, and indicates that, in humans, mechanisms of cortical self-organisation make the abnormal representation available for visual perception. ..
  44. Roma C, Ferrante P, Guardiola O, Ballabio A, Zollo M. New mutations identified in the ocular albinism type 1 gene. Gene. 2007;402:20-7 pubmed
    As the most common form of ocular albinism, ocular albinism type I (OA1) is an X-linked disorder that has an estimated prevalence of about 1:50,000...
  45. Ren J, McCarthy W, Zhang H, Adolph A, Li L. Behavioral visual responses of wild-type and hypopigmented zebrafish. Vision Res. 2002;42:293-9 pubmed
    ..Together, the data suggest that screening pigments in the retina play a role in the regulation of behavioral visual responses and are necessary for avoiding "scatter" under bright light conditions. ..
  46. Kalberlah C, Distler C, Hoffmann K. Sensitivity to relative disparity in early visual cortex of pigmented and albino ferrets. Exp Brain Res. 2009;192:379-89 pubmed publisher
    ..In albino ferrets, only 8% of the neurons in the early visual cortex displayed some sort of disparity-dependent binocular interactions, but none could be clearly identified as relative disparity-coding neuron. ..
  47. Yamada Y, Willekens B, Vrensen G, Wegener A. Morphological differences between lens fibers in albino and pigmented rats. Dev Ophthalmol. 2002;35:135-42 pubmed
    ..In view of a postulated role of ball-and-socket junctions in calcium homeostasis in the lens this may account for differences in cataractogenesis between albino and pigmented rats. ..
  48. Hoffmann M, Lorenz B, Preising M, Seufert P. Assessment of cortical visual field representations with multifocal VEPs in control subjects, patients with albinism, and female carriers of ocular albinism. Invest Ophthalmol Vis Sci. 2006;47:3195-201 pubmed
    ..can be identified with multifocal visual evoked potentials (mfVEPs) and whether it is evident in carriers of ocular albinism (OA1)...
  49. Hegde M, Lewis R, Richards C. Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. Genet Test. 2002;6:7-14 pubmed
    ..X-linked Nettleship-Falls ocular albinism (XLOA, OA1) affects approximately 1/150,000 males in the population...
  50. van Genderen M, Riemslag F, Schuil J, Hoeben F, Stilma J, Meire F. Chiasmal misrouting and foveal hypoplasia without albinism. Br J Ophthalmol. 2006;90:1098-102 pubmed
    ..The findings suggest that misrouting may exert a retrograde influence on foveal development. ..
  51. Chen T, Wang H, Liu Y, Zhao B, Zhao Y, Fan R, et al. Ocular Albinism Type 1 Regulates Melanogenesis in Mouse Melanocytes. Int J Mol Sci. 2016;17: pubmed
    To investigate whether ocular albinism type 1 (OA1) is differentially expressed in the skin of mice with different coat colors and to determine its correlation with coat color establishment in mouse, the expression patterns ..
  52. Rymer J, Choh V, Bharadwaj S, Padmanabhan V, Modilevsky L, Jovanovich E, et al. The albino chick as a model for studying ocular developmental anomalies, including refractive errors, associated with albinism. Exp Eye Res. 2007;85:431-42 pubmed
    ..In very young chicks the underlying genetic mutation may also contribute to refractive error and eye shape abnormalities...
  53. Hertle R, Chan C, Galita D, Maybodi M, Crawford M. Neuroanatomy of the extraocular muscle tendon enthesis in macaque, normal human, and patients with congenital nystagmus. J AAPOS. 2002;6:319-27 pubmed
    ..To search for the presence of, and qualitatively characterize the microscopic anatomy of, nerve terminals in the tendino-scleral (enthesial) area of the extraocular muscle tendon...
  54. Sloper J. Chicken and egg. Br J Ophthalmol. 2006;90:1074-5 pubmed
  55. Kubal A, Dagnelie G, Goldberg M. Ocular albinism with absent foveal pits but without nystagmus, photophobia, or severely reduced vision. J AAPOS. 2009;13:610-2 pubmed publisher
    A 9-year-old Caucasian girl of northern European ancestry presented with findings suggestive of ocular albinism, although she maintains good visual acuity and lacks nystagmus and photophobia...
  56. Wu J, Zhou X, Su L, Lin S, Sun G, Chen L, et al. A newly-designed positioning system for simultaneous indocyanine green and fluorescein anterior segment angiography of the albino rabbit. Med Sci Monit. 2010;16:BR246-9 pubmed
    ..Simultaneous recording of vertical iris indocyanine green angiography (ICGA) and iris fluorescein sodium angiography (IFA) in albino rabbits...
  57. Neveu M, von dem Hagen E, Morland A, Jeffery G. The fovea regulates symmetrical development of the visual cortex. J Comp Neurol. 2008;506:791-800 pubmed
  58. Lauronen L, Jalkanen R, Huttunen J, Carlsson E, Tuupanen S, Lindh S, et al. Abnormal crossing of the optic fibres shown by evoked magnetic fields in patients with ocular albinism with a novel mutation in the OA1 gene. Br J Ophthalmol. 2005;89:820-4 pubmed
    To perform genealogical and clinical studies in Finnish families with X linked ocular albinism (OA1), including characterisation of the potential misrouting of optic fibres by evaluating visual evoked magnetic fields (VEFs), and to ..
  59. Hupfeld D, Distler C, Hoffmann K. Deficits of visual motion perception and optokinetic nystagmus after posterior suprasylvian lesions in the ferret (Mustela putorius furo). Exp Brain Res. 2007;182:509-23 pubmed
    ..These results indicate that area PSS is crucial for global motion processing in the ferret and in that sense may be functionally equivalent to PMLS in the cat and area MT in the monkey...
  60. Alward W. Biomedicine. A new angle on ocular development. Science. 2003;299:1527-8 pubmed
  61. Dorey S, Neveu M, Burton L, Sloper J, Holder G. The clinical features of albinism and their correlation with visual evoked potentials. Br J Ophthalmol. 2003;87:767-72 pubmed
    ..To investigate the relation between the clinical and electrophysiological abnormalities of patients undergoing visual evoked potential investigation for albinism...
  62. Neveu M, Holder G, Sloper J, Jeffery G. Optic chiasm formation in humans is independent of foveal development. Eur J Neurosci. 2005;22:1825-9 pubmed
    ..This strongly suggests that separate mechanisms regulate the development of the central retina and decussation patterns at the optic chiasm...
  63. Philipp R, Distler C, Hoffmann K. A motion-sensitive area in ferret extrastriate visual cortex: an analysis in pigmented and albino animals. Cereb Cortex. 2006;16:779-90 pubmed
    ..Inter-spike-intervals during visual stimulation were significantly shorter in pigmented (median 9 ms) than in albino PSS neurons (median 14 ms). Our data indicate that area PSS may play a crucial role in motion perception in the ferret...
  64. Louwagie C, Jensen A, Christoff A, Holleschau A, King R, Summers C. Correlation of grating acuity with letter recognition acuity in children with albinism. J AAPOS. 2006;10:168-72 pubmed
    ..This study was undertaken to determine whether grating acuity in early childhood can be used as a predictor of letter recognition acuity in patients with albinism...
  65. Schroeder H, Orth U, Meyer König E, Gal A. [Hereditary foveal hypoplasia - clinical differentiation]. Klin Monbl Augenheilkd. 2003;220:559-62 pubmed
    ..In a family cataract, esotropia and foveal hypoplasia is dominantly transmitted...