R G Weleber

Summary

Affiliation: Oregon Health and Science University
Country: USA

Publications

  1. ncbi request reprint Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram
    Peter J Francis
    Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239 4197, USA
    Arch Ophthalmol 123:1146-9. 2005
  2. pmc Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy
    Grazyna Adamus
    Neurological Sciences Institute, Oregon Health and Science University, Beaverton, Oregon, USA
    BMC Ophthalmol 4:5. 2004
  3. ncbi request reprint Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
    Richard G Weleber
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
    Ophthalmic Genet 23:71-97. 2002
  4. ncbi request reprint The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses
    R G Weleber
    Oregon Health Sciences University, Casey Eye Institute, Portland 97201 4197, USA
    Eye (Lond) 12:580-90. 1998
  5. ncbi request reprint Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy
    Richard G Weleber
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, 3375 Southwest Terwilliger Boulevard, Portland, OR 97239, USA
    Ophthalmol Clin North Am 16:583-93, vii. 2003
  6. ncbi request reprint Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies
    Richard G Weleber
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239, USA
    Am J Ophthalmol 139:780-94. 2005
  7. ncbi request reprint X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland, USA
    Arch Ophthalmol 115:1429-35. 1997
  8. doi request reprint The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis
    Richard G Weleber
    Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
    Invest Ophthalmol Vis Sci 52:292-302. 2011
  9. ncbi request reprint Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
    Richard G Weleber
    Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA
    Mol Genet Metab 83:128-37. 2004
  10. pmc Genetic and phenotypic heterogeneity in pattern dystrophy
    P J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Blvd, Portland, OR 97239 4197, USA
    Br J Ophthalmol 89:1115-9. 2005

Detail Information

Publications64

  1. ncbi request reprint Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram
    Peter J Francis
    Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239 4197, USA
    Arch Ophthalmol 123:1146-9. 2005
  2. pmc Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy
    Grazyna Adamus
    Neurological Sciences Institute, Oregon Health and Science University, Beaverton, Oregon, USA
    BMC Ophthalmol 4:5. 2004
    ..However, there is limited information on the occurrence, the specificity of autoantibodies in these patients, and their association with clinical symptoms...
  3. ncbi request reprint Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
    Richard G Weleber
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
    Ophthalmic Genet 23:71-97. 2002
    ..These discoveries have opened new areas of cellular and developmental biology for future research into the causes of retinal blindness...
  4. ncbi request reprint The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses
    R G Weleber
    Oregon Health Sciences University, Casey Eye Institute, Portland 97201 4197, USA
    Eye (Lond) 12:580-90. 1998
    ..Differences in the ERG responses were thus found that provide further clues to the earliest site of pathology within the retina...
  5. ncbi request reprint Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy
    Richard G Weleber
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, 3375 Southwest Terwilliger Boulevard, Portland, OR 97239, USA
    Ophthalmol Clin North Am 16:583-93, vii. 2003
    ....
  6. ncbi request reprint Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies
    Richard G Weleber
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239, USA
    Am J Ophthalmol 139:780-94. 2005
    ..We report the clinical and electrophysiological features of antienolase retinopathy in contrast to the features of antirecoverin retinopathy...
  7. ncbi request reprint X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland, USA
    Arch Ophthalmol 115:1429-35. 1997
    ..Mutations in the RPGR gene at the RP3 locus have been found to cause x-linked retinitis pigmentosa in some families...
  8. doi request reprint The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis
    Richard G Weleber
    Oregon Retinal Degeneration Center, Oregon Health and Science University, Portland, OR, USA
    Invest Ophthalmol Vis Sci 52:292-302. 2011
    ..To describe in detail the characteristic clinical phenotype and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65...
  9. ncbi request reprint Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
    Richard G Weleber
    Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA
    Mol Genet Metab 83:128-37. 2004
    ..The ERG findings support the existence early in the disease of a relative pre- or post-synaptic block of effective neurotransmission from photoreceptor inner segments to the second order bipolar neurons...
  10. pmc Genetic and phenotypic heterogeneity in pattern dystrophy
    P J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Blvd, Portland, OR 97239 4197, USA
    Br J Ophthalmol 89:1115-9. 2005
    ..Most previous studies have detailed the clinical findings in single families, making it difficult to derive data from which progression and visual outcome can be generalised...
  11. pmc Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa
    K T Oh
    Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA
    Br J Ophthalmol 88:1533-7. 2004
    ..To describe the clinical characteristics and disease course of a large family with retinitis pigmentosa (RP) from an Arg135Leu change in rhodopsin...
  12. ncbi request reprint Allelic variation in the VMD2 gene in best disease and age-related macular degeneration
    A J Lotery
    Department of Ophthalmology, The University of Iowa College of Medicine, Iowa City 52242, USA
    Invest Ophthalmol Vis Sci 41:1291-6. 2000
    ..To assess the allelic variation of the VMD2 gene in patients with Best disease and age-related macular degeneration (AMD)...
  13. pmc Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2
    P M Jakobs
    Department of Molecular Medicine, Oregon Health Sciences University, Portland, OR, USA
    Am J Hum Genet 66:1432-6. 2000
    ..This is the first report of an inherited cataract that is caused by a mutation in a cytoskeletal protein...
  14. ncbi request reprint Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14
    A O Edwards
    Casey Eye Institute, Department of Ophthalmology, Oregon Health Sciences University, Portland, USA
    Am J Ophthalmol 127:426-35. 1999
    ..Characterize the phenotype of autosomal dominant Stargardt-like macular dystrophy in two families linked to chromosome 6q14 and determine whether they share a common ancestry...
  15. ncbi request reprint Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q
    M L Klein
    Macular Degeneration Center, Casey Eye Institute, Oregon Health Sciences University, Portland, USA
    Arch Ophthalmol 116:1082-8. 1998
    ..To identify the chromosomal location of a disease-causing gene and to describe the clinical characteristics of a large family with age-related macular degeneration (ARMD)...
  16. ncbi request reprint Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
    S G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, USA
    Invest Ophthalmol Vis Sci 41:1898-908. 2000
    ..To determine the disease expression in heterozygotes for mutations in the RP1 gene, a newly identified cause of autosomal dominant retinitis pigmentosa (adRP)...
  17. ncbi request reprint Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations
    D A Pillers
    Department of Pediatrics, Oregon Child Health Research Center, Doernbecher Children s Hospital, Oregon Health Sciences University, Portland 97201 3042, USA
    Hum Genet 105:2-9. 1999
    ....
  18. ncbi request reprint A new locus for autosomal dominant congenital cataracts maps to chromosome 3
    P L Kramer
    Department of Neurology, Oregon Health Sciences University, Portland 97201, USA
    Invest Ophthalmol Vis Sci 41:36-9. 2000
    ..To map a gene for cataracts in a family with congenital nuclear and sutural cataracts and to examine candidate genes in the linked region...
  19. doi request reprint Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss
    P J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon 97239 4197, USA
    J Med Genet 46:300-7. 2009
    ..This paper examines other AMD susceptibility genes to determine if these genotypes influenced disease progression and treatment response...
  20. ncbi request reprint HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model
    A Kobayashi
    Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami School of Medicine, Florida, USA
    Invest Ophthalmol Vis Sci 41:3268-77. 2000
    ..To investigate the function and pathogenicity of HRG4, a photoreceptor synaptic protein homologous to the Caenorhabditis elegans neuroprotein UNC119...
  21. ncbi request reprint Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus
    Kean T Oh
    Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
    Retina 24:920-8. 2004
    ..To characterize the clinical and electroretinogram (ERG) features of our cohort of patients with Stargardt disease (STGD) exhibiting coding sequence variations in the ABCA4 gene...
  22. ncbi request reprint Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23
    Kean T Oh
    Department of Ophthalmology, University of North Carolina, Chapel Hill, North Carolina, USA
    Am J Ophthalmol 136:306-13. 2003
    ..To examine the difference in expression of retinitis pigmentosa from mutations at codon 23 and codon 347 or rhodopsin; to report a novel mutation in rhodopsin...
  23. ncbi request reprint Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants
    D A Pillers
    Oregon Retinal Degeneration Center, Oregon Child Health Research Center, Portland, Oregon, 97201, USA
    Mol Genet Metab 66:100-10. 1999
    ..Although Dp427 and Dp140 isoforms do not appear to be important contributors to the ERG, lack of Dp260 and possibly Dp71 isoforms is associated with an abnormal ERG...
  24. ncbi request reprint Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
    Arch Ophthalmol 107:1170-9. 1989
    ..We also recommend that the gene symbols CSNB1 and CSNB2 be used for complete congenital stationary night blindness and Aland disease, respectively...
  25. ncbi request reprint An analysis of allelic variation in the ABCA4 gene
    A R Webster
    Department of Ophthalmology, The University of Iowa College of Medicine, 200 Hawkins Drive, Iowa City, IA 52242, USA
    Invest Ophthalmol Vis Sci 42:1179-89. 2001
    ..To assess the allelic variation of the ATP-binding transporter protein (ABCA4)...
  26. ncbi request reprint Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
    M Litt
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, OR 97201, USA
    Hum Mol Genet 7:471-4. 1998
    ..We have mapped an ADCC gene in family ADCC-2 to chromosome 21q22.3 near the alpha-crystallin gene CRYAA. By sequencing the coding regions of CRYAA, we found that a missense mutation, R116C, is associated with ADCC in this family...
  27. ncbi request reprint Familial optic atrophy with negative electroretinograms
    R G Weleber
    Department of Ophthalmology, Oregon Health Sciences University, Portland
    Arch Ophthalmol 110:640-5. 1992
    ....
  28. pmc Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies
    Grazyna Adamus
    Casey Eye Institute, Department of Ophthalmology, School of Medicine, Oregon Health and Science University, Portland, OR 97239, USA
    Exp Mol Pathol 87:195-203. 2009
    ..Our studies suggest that anti-transducin autoantibodies can serve as molecular biomarkers for retinal phenotypes and could be used for progression of retinal dysfunction and degeneration...
  29. ncbi request reprint HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective
    Dennis W Schultz
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, 3375 SW Terwilliger Boulevard, Portland, OR 97239 4197, U S A
    Ophthalmic Genet 26:101-5. 2005
    ..The data can be reconciled through proposing both additional variants in HEMICENTIN-1 and a second genetic risk factor for AMD in the region...
  30. pmc Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency
    Melanie B Gillingham
    Department of Pediatrics, Oregon Health and Science University, Portland, OR 97239, USA
    Mol Genet Metab 86:124-33. 2005
    ..31). Thus, optimal dietary therapy as indicated by low plasma 3-hydroxyacylcarnitine and high plasma DHA concentrations was associated with retention of retinal function and visual acuity in children with LCHAD or TFP deficiency...
  31. pmc Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration
    Peter J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, United States of America
    PLoS ONE 2:e1197. 2007
    ..We aimed to better understand the functional role of this gene in the AMD disease process and assess whether it is associated with earlier forms of the disease...
  32. ncbi request reprint Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur
    Rodney K Beals
    Department of Orthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon 97239, USA
    Am J Med Genet A 143:2444-7. 2007
    ..A long term followup of one patient is presented along with a review of the reported cases...
  33. ncbi request reprint Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype
    Karmen M Trzupek
    Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, Oregon 97239, USA
    Am J Med Genet A 143:1218-22. 2007
    ..The present sibs are the first in whom these features are observed while the parents are normal. Our findings support an expansion of the ocular phenotype and suggest the existence of germ line mosaicism...
  34. ncbi request reprint Joubert syndrome surviving to adulthood associated with a progressive movement disorder
    Steven A Gunzler
    Parkinson s Disease Research, Education, and Clinical Center, Portland VA Medical Center, Portland, Oregon, USA
    Mov Disord 22:262-5. 2007
    ..This case demonstrates that a patient with Joubert syndrome may survive into adulthood and present as a chronic neurologic disorder with subacute extrapyramidal signs...
  35. ncbi request reprint The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration
    Peter J Francis
    Macular Degeneration Center, Casey Eye Institute, Oregon Health and Science University, Portland, OR 97239, USA
    Hum Hered 63:212-8. 2007
    ....
  36. ncbi request reprint Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia
    Rodney K Beals
    Department of Orthopaedics and Rehabilitation, Oregon Health and Science University, Portland, Oregon, USA
    Am J Med Genet A 131:67-70. 2004
    ..All affected members had limitations of ocular motility and some had ptosis. Restrictive lung disease is a feature in most affected patients in this family. It is possible that this syndrome may be due to a muscle abnormality...
  37. ncbi request reprint Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration
    Dennis W Schultz
    Casey Eye Institute, Oregon Health and Science University, Portland, 97239, USA
    Arch Ophthalmol 121:679-83. 2003
    ..In addition, the epsilon 2 allele of APOE was reported to be possibly associated with an increased risk of AMD...
  38. pmc Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome)
    Robert A Egan
    Casey Eye Institute, Department of Ophthalmology, Oregon Health and Science University, Portland 97201, USA
    Am J Ophthalmol 140:267-74. 2005
    ..Since the neuro-ophthalmologic and electroretinographic (ERG) features have never been well delineated, we describe them in 16 patients with PKAN...
  39. ncbi request reprint Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family
    Dennis W Schultz
    Macular Degeneration Center, Casey Eye Institute, Portland, OR 97239 4197, USA
    Hum Mol Genet 12:3315-23. 2003
    ....
  40. ncbi request reprint Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3
    R D Carrero-Valenzuela
    Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA
    Arch Ophthalmol 114:737-8. 1996
    ..Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results...
  41. doi request reprint Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2
    Elizabeth A Grant
    School of Medicine, Oregon Health and Science University, Portland, Oregon 97239, USA
    Ophthalmic Genet 29:133-8. 2008
    ..To report two cases of neurofibromatosis type 2 (NF2) initially presenting with isolated bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE)...
  42. ncbi request reprint Ophthalmologic screening of deaf students in Oregon
    M V Brinks
    Department of Ophthalmology and Casey Eye Institute, Oregon Health Sciencs University, Portland, USA
    J Pediatr Ophthalmol Strabismus 38:11-5. 2001
    ..This study alerted the providers of special education services for the deaf and the ophthalmologic community in Oregon of the need for better eye care for these students...
  43. ncbi request reprint Ocular clinicopathologic study of gyrate atrophy
    D J Wilson
    Department of Ophthalmology, Oregon Health Sciences University, Portland 97201
    Am J Ophthalmol 111:24-33. 1991
    ..Electron microscopic examination disclosed abnormalities of the mitochondria of the corneal endothelium and the non-pigmented ciliary epithelium. Similar, but less severe, mitochondrial abnormalities were present in the photoreceptors...
  44. ncbi request reprint Clinical phenotype as a prognostic factor in Stargardt disease
    Kean T Oh
    Department of Ophthalmology, University of North Carolina, Chapel Hill, NC, USA
    Retina 24:254-62. 2004
    ..To determine the prognostic significance of widespread flecks, described as fundus flavimaculatus, in patients with Stargardt disease...
  45. doi request reprint Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa
    Saloni Walia
    Department of Ophthalmology, University of Illinois at Chicago, Chicago, Illinois, USA
    Ophthalmology 117:1190-8. 2010
    ..To correlate visual acuity of patients with Leber's congenital amaurosis (LCA) and early childhood-onset retinitis pigmentosa (RP) with mutations in underlying LCA genes...
  46. ncbi request reprint Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes
    Roberto Anitori
    Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR 97239, USA
    Mol Genet Metab 84:176-88. 2005
    ..Furthermore, the high threshold for phenotypic expression in single muscle fibers (92-96%) suggests that therapies may only need to increase the percentage of wild-type mtDNA by a small amount to be beneficial...
  47. ncbi request reprint Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram
    William R Woodward
    Department of Neurology, Oregon Health and Science University, Portland, USA
    Doc Ophthalmol 115:187-201. 2007
    ..Moreover, in light of the effects of both isoflurane and the ketamine cocktail on blood glucose levels, it would be prudent to control the fasting state of the animals in quantitative ERG studies...
  48. ncbi request reprint A network of patients with orphan retinal diseases for clinical trials: goals, structure, challenges
    Richard G Weleber
    Oregon Retinal Degeneration Center and Ophthalmology and Molecular and Medical Genetics at the Casey Eye Institute at Oregon, Health Science and University in Portland, OR, USA
    Retina 25:S66-S67. 2005
  49. doi request reprint Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene
    Saloni Walia
    Department of Ophthamology and Visual Sciences, University of Illinois, Chicago 60612 7234, USA
    Arch Ophthalmol 126:379-84. 2008
    ....
  50. ncbi request reprint Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram
    Sureka Thiagalingam
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Ophthalmic Genet 28:135-42. 2007
    ..To identify mutations in KCNV2 in patients with a form of cone dystrophy characterized by a supernormal rod electroretinogram (ERG)...
  51. ncbi request reprint Electronegative electroretinogram in mucolipidosis IV
    Shan M Pradhan
    Keck School of Medicine, University of Southern California, Los Angeles, USA
    Arch Ophthalmol 120:45-50. 2002
    ..To demonstrate the progression of electroretinographic (ERG) findings in mucolipidosis IV...
  52. pmc Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)
    Kirk Mykytyn
    Department of Pediatrics, Division of Medical Genetics, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA, 52242, USA
    Am J Hum Genet 72:429-37. 2003
    ..We show that the BBS1 gene is highly conserved between mice and humans. Finally, we demonstrate that BBS1 is inherited in an autosomal recessive manner and is rarely, if ever, involved in complex inheritance...
  53. pmc Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene
    Darryl Y Nishimura
    Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
    Am J Hum Genet 77:1021-33. 2005
    ..This type of mutation is likely to be underreported because of the difficulty of deletion detection in the heterozygous state by the mutation screening methods that are used in many studies...
  54. ncbi request reprint Molecular testing for hereditary retinal disease as part of clinical care
    Katy Downs
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, 1000 Wall Street, Ann Arbor, MI 48105, USA
    Arch Ophthalmol 125:252-8. 2007
    ..To describe clinical molecular testing for hereditary retinal degenerations, highlighting results, interpretation, and patient education...
  55. ncbi request reprint 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...
  56. ncbi request reprint Expanded genome scan in extended families with age-related macular degeneration
    Sandra Barral
    Laboratory of Statistical Genetics, Rockefeller University, New York, New York, USA
    Invest Ophthalmol Vis Sci 47:5453-9. 2006
    ..To investigate further the genetic contribution to age-related macular degeneration (AMD), increasing the power of a previous analysis and reproducing the original findings...
  57. ncbi request reprint Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groups
    Richard G Weleber
    Ophthalmology and Molecular and Medical Genetics at the Oregon Health and Science University, USA
    Retina 25:S4-S7. 2005
  58. pmc Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
    Anren Li
    Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, MD 20892, USA
    Am J Hum Genet 74:817-26. 2004
    ..Homology to other CYP450 proteins suggests that CYP4V2 may have a role in fatty acid and steroid metabolism, consistent with biochemical studies of patients with BCD...
  59. ncbi request reprint Multifocal electroretinographic evaluation of long-term hydroxychloroquine users
    Raj K Maturi
    Midwest Eye Institute, Indianapolis, IN 46280, USA
    Arch Ophthalmol 122:973-81. 2004
    ....
  60. pmc Age-related macular degeneration--a genome scan in extended families
    Jacek Majewski
    Laboratory of Statistical Genetics, Rockefeller University, New York, NY, USA
    Am J Hum Genet 73:540-50. 2003
    ..Our study has identified new loci that should be considered in future mapping and mutational analyses of AMD and has strengthened the evidence in support of loci suggested by other studies...
  61. ncbi request reprint Clinical diagnoses that overlap with choroideremia
    Thomas K M Lee
    Department of Ophthalmology, University of Alberta, Edmonton, Alta
    Can J Ophthalmol 38:364-72; quiz 372. 2003
    ..To understand which clinical presentations suggest a diagnosis of choroideremia (CHM)...
  62. pmc Choroideremia: analysis of the retina from a female symptomatic carrier
    Vera L Bonilha
    The Cleveland Clinic Foundation, The Cole Eye Institute, Cleveland, Ohio 44195, USA
    Ophthalmic Genet 29:99-110. 2008
    ..To define the retinal pathology in a 91 year-old affected matriarch of a three-generation choroideremia family with multiple manifesting carriers...
  63. ncbi request reprint Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective
    Gerald A Fishman
    Department of Ophthalmology and Visual Sciences, University of Illinois, Chicago, Illinois, USA
    Retina 25:772-7. 2005
  64. ncbi request reprint Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome
    Kirk Mykytyn
    Department of Pediatrics, Division of Medical Genetics and the Howard Hughes Medical Institute, University of Iowa, Iowa City, Iowa 52242, USA
    Nat Genet 31:435-8. 2002
    ..Here we report the identification of the gene BBS1 and show that a missense mutation of this gene is a frequent cause of BBS. In addition, we provide data showing that this common mutation is not involved in triallelic inheritance...