Richard G. Weleber
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Richard G. Weleber's Degrees
- Doctorate Medicine University of California, San Francisco
- PhD Physiology University of California, Davis
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(Suggest an Edit or Addition)Richard G. Weleber's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Long-term effect of gene therapy on Leber's congenital amaurosis. (2015) (582)
- Evaluation of grid pattern photocoagulation for macular edema in central vein occlusion. The Central Vein Occlusion Study Group M report. (1995) (512)
- Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate (2000) (463)
- Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. (1998) (457)
- Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002) (354)
- Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness (2000) (332)
- Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. (1993) (317)
- Molecular genetics of human blue cone monochromacy. (1989) (279)
- Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q. (1998) (248)
- Dose-response relationship between light irradiance and the suppression of plasma melatonin in human volunteers (1988) (242)
- Mutations in the CRB1 gene cause Leber congenital amaurosis. (2001) (236)
- Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (2004) (235)
- CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia (2005) (222)
- Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene. (2005) (221)
- The effect of age on human cone and rod ganzfeld electroretinograms. (1981) (219)
- Age-related macular degeneration--a genome scan in extended families. (2003) (216)
- Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy (2004) (212)
- An analysis of allelic variation in the ABCA4 gene. (2001) (210)
- Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. (2003) (200)
- Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children (2010) (200)
- Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions (2017) (200)
- Visual acuity impairment in patients with retinitis pigmentosa at age 45 years or older. (1999) (192)
- Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy. (2011) (179)
- Dystrophin expression in the human retina is required for normal function as defined by electroretinography (1993) (179)
- Autosomal-dominant congenital cataract associated with a deletion mutation in the human beaded filament protein gene BFSP2. (2000) (176)
- Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies. (2005) (170)
- Diagnostic clinical findings of a new syndrome with night blindness, maculopathy, and enhanced S cone sensitivity. (1990) (170)
- Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. (2016) (167)
- Mutation analysis of 3 genes in patients with Leber congenital amaurosis. (2000) (166)
- Randomized trial of ciliary neurotrophic factor delivered by encapsulated cell intraocular implants for retinitis pigmentosa. (2013) (165)
- Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy (2014) (164)
- Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease (2013) (160)
- Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. (2000) (152)
- Transplantation of Human Embryonic Stem Cell-Derived Retinal Pigment Epithelial Cells in Macular Degeneration (2018) (144)
- Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia (2002) (140)
- Recommendations for genetic testing of inherited eye diseases: report of the American Academy of Ophthalmology task force on genetic testing. (2012) (139)
- Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss (2008) (135)
- Multifocal electroretinographic evaluation of long-term hydroxychloroquine users. (2004) (132)
- Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. (2000) (131)
- Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis (2012) (129)
- Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). (2003) (123)
- Bietti's crystalline dystrophy. A clinicopathologic correlative study. (1989) (119)
- Retinitis pigmentosa. A symposium on terminology and methods of examination. (1983) (114)
- HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. (2000) (113)
- Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. (2010) (111)
- Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database (2012) (108)
- A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants (2001) (103)
- Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. (2012) (101)
- The dystrophic retina in multisystem disorders: The electroretinogram in neuronal ceroid lipofuscinoses (1998) (96)
- Abnormal retinal function associated with isotretinoin therapy for acne. (1986) (92)
- The LOC387715 Gene, Smoking, Body Mass Index, Environmental Associations with Advanced Age-Related Macular Degeneration (2007) (91)
- Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing (2016) (90)
- Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families. (1990) (89)
- Characterization of the ocular phenotype of Duchenne and Becker muscular dystrophy. (1994) (87)
- Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome). (2005) (85)
- Advancing therapeutic strategies for inherited retinal degeneration: recommendations from the Monaciano Symposium. (2015) (84)
- Long-term Follow-up of Patients With Retinitis Pigmentosa Receiving Intraocular Ciliary Neurotrophic Factor Implants. (2016) (84)
- Lack of an association of apolipoprotein E gene polymorphisms with familial age-related macular degeneration. (2003) (84)
- Nonsyndromic Retinitis Pigmentosa Overview (2017) (84)
- Residual Foveal Cone Structure in CNGB3-Associated Achromatopsia (2016) (81)
- Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. (1976) (81)
- Effect of Light Wavelength on the Suppression of Nocturnal Plasma Melatonin in Normal Volunteers a (1985) (81)
- Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration. (2000) (80)
- International Federation of Clinical Neurophysiology: Recommendations for visual system testing (2010) (79)
- Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. (2010) (79)
- Genetic and phenotypic heterogeneity in pattern dystrophy (2005) (77)
- Duchenne/Becker muscular dystrophy: correlation of phenotype by electroretinography with sites of dystrophin mutations (1999) (77)
- A histopathologic study of a choroideremia carrier. (1990) (77)
- Haplotypes in the Complement Factor H (CFH) Gene: Associations with Drusen and Advanced Age-Related Macular Degeneration (2007) (76)
- Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism (1995) (75)
- Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina. (1998) (74)
- Dysmorphic syndrome with phytanic acid oxidase deficiency, abnormal very long chain fatty acids, and pipecolic acidemia: studies in four children. (1986) (72)
- mdx Cv3 Mouse Is a Model for Electroretinography of Duchenne/Becker Muscular Dystrophy (1995) (70)
- Comparison of the new perimetric GATE strategy with conventional full-threshold and SITA standard strategies. (2009) (70)
- Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. (1992) (69)
- The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. (2011) (68)
- Effects of dystrophin isoforms on signal transduction through neural retina: genotype-phenotype analysis of duchenne muscular dystrophy mouse mutants. (1999) (68)
- Nonsense-codon mutations of the ornithine aminotransferase gene with decreased levels of mutant mRNA in gyrate atrophy. (1992) (65)
- X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon. (1986) (64)
- OA1 mutations and deletions in X-linked ocular albinism. (1998) (64)
- Digoxin retinal toxicity. Clinical and electrophysiological evaluation of a cone dysfunction syndrome. (1981) (64)
- Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. (1989) (64)
- Retinal effects of 6 months of daily use of tadalafil or sildenafil. (2009) (61)
- Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. (2005) (61)
- Optical Coherence Tomography Angiography in Choroideremia: Correlating Choriocapillaris Loss With Overlying Degeneration. (2016) (59)
- The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene. (2019) (59)
- Discrete expression and distribution pattern of TIMP-3 in the human retina and choroid. (1997) (59)
- Ring-G chromosome, a new G-deletion syndrome? (1968) (58)
- A°land Island Eye Disease (Forsius-Eriksson Syndrome) Associated With Contiguous Deletion Syndrome at Xp21: Similarity to Incomplete Congenital Stationary Night Blindness (1989) (58)
- Quantification of Ellipsoid Zone Changes in Retinitis Pigmentosa Using en Face Spectral Domain-Optical Coherence Tomography. (2016) (58)
- Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14. (1999) (57)
- Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations. (1983) (57)
- Clinical trial of vitamin B6 for gyrate atrophy of the choroid and retina. (1981) (54)
- Retinal Function and Physiological Studies (1988) (53)
- Fast and slow oscillations of the electro-oculogram in Best's macular dystrophy and retinitis pigmentosa. (1989) (53)
- Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1) (1997) (52)
- Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies. (2012) (51)
- Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease). (2004) (51)
- Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change (1999) (50)
- Ophthalmologic and systemic manifestations of Alström's disease. (1986) (50)
- Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene. (2008) (50)
- Effect of methazolamide on chronic macular edema in patients with retinitis pigmentosa. (1994) (49)
- Infantile and childhood retinal blindness: A molecular perspective (The Franceschetti Lecture) (2002) (48)
- REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA (2017) (48)
- Tandem duplication of proximal 22q: a cause of cat-eye syndrome. (1985) (47)
- Retinitis Pigmentosa Overview (2013) (47)
- VFMA: Topographic Analysis of Sensitivity Data From Full-Field Static Perimetry. (2015) (47)
- Evidence for genetic heterogeneity in X-linked congenital stationary night blindness. (1998) (47)
- Novel Mutations in the KCNV2 Gene in Patients with Cone Dystrophy and a Supernormal Rod Electroretinogram (2007) (47)
- Gyrate atrophy of the choroid and retina with hyperornithinemia: biochemical and histologic studies and response to vitamin B6. (1980) (46)
- Ophthalmic manifestations of infantile phytanic acid storage disease. (1984) (46)
- Visual acuity changes in patients with leber congenital amaurosis and mutations in CEP290. (2013) (46)
- The Hajdu-Cheney syndrome. Report of two cases and review of the literature. (1976) (44)
- Predicting the pathogenicity of RPE65 mutations (2009) (44)
- Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene. (2011) (42)
- Choroideremia: Analysis of the Retina from a Female Symptomatic Carrier (2008) (42)
- HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD Locus in the Context of Complex Disease: Review and Perspective (2005) (42)
- Iris hamartomas (Lisch nodules) in a case of segmental neurofibromatosis. (1983) (42)
- Computerized quantitative analysis of kinetic visual fields. (1986) (41)
- mdxCv3 mouse is a model for electroretinography of Duchenne/Becker muscular dystrophy. (1995) (41)
- Results at 5 Years After Gene Therapy for RPE65-Deficient Retinal Dystrophy. (2018) (40)
- OUTCOME MEASURES AND THEIR APPLICATION IN CLINICAL TRIALS FOR RETINAL DEGENERATIVE DISEASES: Outline, Review, and Perspective (2005) (40)
- Gyrate atrophy of choroid and retina: deficient activity of ornithine ketoacid aminotransferase in cultured skin fibroblasts. (1977) (40)
- Molecular testing for hereditary retinal disease as part of clinical care. (2007) (40)
- Comparison of the clinical expression of retinitis pigmentosa associated with rhodopsin mutations at codon 347 and codon 23. (2003) (38)
- Stargardt's macular dystrophy. (2000) (38)
- Chapter 40 – Retinitis Pigmentosa and Allied Disorders (2013) (38)
- Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. (2005) (38)
- Test–Retest Variability of Functional and Structural Parameters in Patients with Stargardt Disease Participating in the SAR422459 Gene Therapy Trial (2016) (37)
- A heterozygous putative null mutation in ROM1 without a mutation in peripherin/RDS in a family with retinitis pigmentosa. (1995) (36)
- Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy. (2009) (36)
- Ocular clinicopathologic study of gyrate atrophy. (1991) (36)
- ELECTRORETINOGRAPHIC FINDINGS IN PATIENTS WITH STARGARDT DISEASE AND FUNDUS FLAVIMACULATUS (2002) (36)
- Retinal dystrophy in Jeune's syndrome. (1987) (36)
- Structure-Function Modeling of Optical Coherence Tomography and Standard Automated Perimetry in the Retina of Patients with Autosomal Dominant Retinitis Pigmentosa (2016) (35)
- Sperm abnormalities in retinitis pigmentosa. (1997) (35)
- Congenital stationary night blindness presenting as Leber's congenital amaurosis. (1987) (33)
- Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. (1990) (33)
- VITAMIN B6 IN MANAGEMENT OF GYRATE ATROPHY OF CHOROID AND RETINA (1978) (33)
- Normal Values for the Full Visual Field, Corrected for Age- and Reaction Time, Using Semiautomated Kinetic Testing on the Octopus 900 Perimeter (2016) (33)
- Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram (2007) (33)
- High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy. (2010) (32)
- Retinal morphology of patients with achromatopsia during early childhood: implications for gene therapy. (2014) (32)
- A new locus for autosomal dominant congenital cataracts maps to chromosome 3. (2000) (32)
- The Effect of Multispot Laser Panretinal Photocoagulation on Retinal Sensitivity and Driving Eligibility in Patients With Diabetic Retinopathy. (2016) (32)
- Cone Degeneration (Bull’s Eye Dystrophies) and Color Vision Defects (1988) (31)
- Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies. (2009) (31)
- Expression defect of ornithine aminotransferase gene in gyrate atrophy. (1988) (31)
- Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1. (2011) (31)
- Molecular and Clinical Findings in Patients With Knobloch Syndrome. (2016) (30)
- Acute macular outer retinopathy (AMOR): a reappraisal of acute macular neuroretinopathy using multimodality diagnostic testing. (2011) (30)
- OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF CHOROIDAL NEOVASCULARIZATION IN FOUR INHERITED RETINAL DYSTROPHIES (2016) (30)
- Ophthalmologic screening of deaf students in Oregon. (2001) (30)
- Gyrate atrophy of the choroid and retina: characterization of mutant ornithine aminotransferase and mechanism of response to vitamin B6. (1989) (29)
- Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt Disease Using En Face Optical Coherence Tomography and Optical Coherence Tomography Angiography. (2019) (29)
- CLINICAL PHENOTYPE AS A PROGNOSTIC FACTOR IN STARGARDT DISEASE (2004) (29)
- Novel mutations of the P gene in type II oculocutaneous albinism (OCA2) (1997) (29)
- Effect of Oral Valproic Acid vs Placebo for Vision Loss in Patients With Autosomal Dominant Retinitis Pigmentosa: A Randomized Phase 2 Multicenter Placebo-Controlled Clinical Trial (2018) (29)
- Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen. (1998) (28)
- Autosomal dominant Stargardt-like macular dystrophy: founder effect and reassessment of genetic heterogeneity. (2001) (28)
- Parental origin of the extra chromosome in the cat eye syndrome: evidence from heteromorphism and in situ hybridization analysis. (1988) (27)
- Sorsby fundus dystrophy. A family with the Ser181Cys mutation of the tissue inhibitor of metalloproteinases 3. (1996) (27)
- Projection-Resolved Optical Coherence Tomographic Angiography of Retinal Plexuses in Retinitis Pigmentosa. (2019) (27)
- Aland Island eye disease (Forsius-Eriksson syndrome) associated with contiguous deletion syndrome at Xp21. Similarity to incomplete congenital stationary night blindness. (1989) (27)
- De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy (2016) (27)
- Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy. (2003) (27)
- Identification by fluorescence of two G rings: (46,XY,21r) G deletion syndrome I and (46, XX, 22r) G deletion syndrome II. (1972) (27)
- Negative-configuration electroretinogram in Oregon eye disease. Consistent phenotype in Xp21 deletion syndrome. (1993) (26)
- Characterization of Visual Function, Interocular Variability and Progression Using Static Perimetry–Derived Metrics in RPGR-Associated Retinopathy (2018) (26)
- Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association. (2017) (25)
- Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. (1998) (25)
- Molecular genetic heterogeneity in autosomal dominant drusen (2001) (25)
- X-linked retinitis pigmentosa associated with a 2-base pair insertion in codon 99 of the RP3 gene RPGR. (1997) (23)
- Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. (1994) (23)
- Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months (2018) (23)
- Combined Retinal Hamartomas Leading to the Diagnosis of Neurofibromatosis Type 2 (2008) (22)
- Genotype-phenotype correlation of a pyridoxine-responsive form of gyrate atrophy. (1999) (22)
- Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for Therapy (2019) (22)
- Aicardi's syndrome. Case report, clinical features, and electrophysiologic studies. (1978) (21)
- Choriocapillaris evaluation in choroideremia using optical coherence tomography angiography. (2017) (21)
- Clinical diagnoses that overlap with choroideremia. (2003) (21)
- Ruvalcaba‐Myhre‐Smith Syndrome (1988) (21)
- Age-related Macular Degeneration Clinical Features in a Large Family and Linkage to Chromosome 1 q (2000) (21)
- Non-Hodgkin's lymphoma causing fundus picture simulating fundus flavimaculatus. (1987) (21)
- Electronegative electroretinogram in mucolipidosis IV. (2002) (20)
- Microcephaly with chorioretinal degeneration. (1998) (20)
- INSIGHTS INTO AUTOSOMAL DOMINANT STARGARDT-LIKE MACULAR DYSTROPHY THROUGH MULTIMODALITY DIAGNOSTIC IMAGING (2016) (19)
- Conorenal dysplasia: A syndrome of cone‐shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur (2007) (19)
- Cross-Sectional and Longitudinal Assessment of Retinal Sensitivity in Patients With Childhood-Onset Stargardt Disease (2018) (19)
- Leber Congenital Amaurosis (2013) (19)
- Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel–associated retinopathy (2018) (19)
- Longitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2 (2017) (19)
- Automated detection of preserved photoreceptor on optical coherence tomography in choroideremia based on machine learning (2018) (18)
- Distal arthrogryposis 5: A dominant syndrome of peripheral contractures and ophthalmoplegia (2004) (18)
- Characterization of Chorioretinopathy Associated with Mitochondrial Trifunctional Protein Disorders: Long-Term Follow-up of 21 Cases. (2016) (18)
- Autosomal Dominant Retinal Dystrophy With Electronegative Waveform Associated With a Novel RAX2 Mutation. (2015) (17)
- Description of a new mutation in rhodopsin, Pro23Ala, and comparison with electroretinographic and clinical characteristics of the Pro23His mutation. (2000) (17)
- Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groups. (2005) (17)
- A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis (2018) (16)
- Cytogenetic investigation of cat-eye syndrome. (1977) (15)
- Bietti’s Crystalline Dystrophy (2012) (15)
- Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa (2004) (15)
- Suppression of cGMP-Dependent Photoreceptor Cytotoxicity With Mycophenolate Is Neuroprotective in Murine Models of Retinitis Pigmentosa (2020) (14)
- Chromosome anomalies. (1967) (14)
- Expanded genome scan in extended families with age-related macular degeneration. (2007) (14)
- Long-Term Investigation of Retinal Function in Patients with Achromatopsia (2020) (14)
- Unique epitopes for carbonic anhydrase II autoantibodies related to autoimmune retinopathy and cancer-associated retinopathy. (2016) (13)
- The Cuban experience. False hope for a cure for retinitis pigmentosa. (1996) (13)
- Chapter 17 – Retinitis Pigmentosa and Allied Disorders (2006) (13)
- NON‐HODGKIN'S LYMPHOMA CAUSING FUNDUS PICTURE SIMULATING FUNDUS FLAVIMACULATUS (1988) (13)
- Microcephaly with chorioretinopathy in a brother–sister pair: Evidence for germ line mosaicism and further delineation of the ocular phenotype (2004) (13)
- Choroideremia associated with choroidal neovascularization treated with intravitreal bevacizumab (2014) (13)
- Inheritance of ornithine aminotransferase gene, mRNA, and enzyme defect in a family with gyrate atrophy of the choroid and retina. (1989) (13)
- Gyrate atrophy of the choroid and retina: clinical and biochemical heterogeneity and response to vitamin B6. (1982) (12)
- Familial optic atrophy with negative electroretinograms. (1992) (12)
- Variability in Isopter Position and Fatigue during Semi-Automated Kinetic Perimetry (2011) (12)
- Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia (2016) (12)
- Disease Expression of RP 1 Mutations Causing Autosomal Dominant Retinitis Pigmentosa (2000) (12)
- Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy (2020) (11)
- Effect of Methazolamide on Chronic Macular Edema in Patients with Retinitis Pigmentosa (1995) (11)
- Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram. (2005) (11)
- Novel variants in PNPLA6 causing syndromic retinal dystrophy. (2020) (10)
- Allelic Variation in the VMD 2 Gene in Best Disease and Age-Related Macular Degeneration (2000) (10)
- EFFECT OF GLUCAGON ON INCORPORATION OF GLYCINE-C14 INTO PROTEIN OF VOLUNTARY SKELETAL MUSCLE. (1963) (10)
- An eye for an eye: New models of genetic ocular disease (1997) (10)
- Gyrate atrophy of the choroid and retina (1981) (10)
- Quantification of the Visual Field Loss in Retinitis Pigmentosa Using Semi-Automated Kinetic Perimetry (2016) (10)
- Screening of the gene encoding the alpha'-subunit of cone cGMP-PDE in patients with retinal degenerations. (1999) (9)
- GYRATE ATROPHY‐LIKE PHENOTYPE WITH NORMAL PLASMA ORNITHINE (1997) (9)
- Abnormal night vision and altered dark adaptometry in patients treated with isotretinoin for acne. (1986) (9)
- Acute zonal occult outer retinopathy (AZOOR) and pars planitis: a new association? (2008) (8)
- Comparison of nonparametric methods for static visual field interpolation (2016) (8)
- Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease. (1998) (8)
- Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (2012) (8)
- A deletion in the ornithine aminotransferase gene in gyrate atrophy. (1992) (8)
- Early findings in a Phase I/IIa clinical program for Stargardt disease (STGD1, MIM #248200) (2015) (8)
- The ‘dark’ side of sedation: 12 years of office‐based pediatric deep sedation for electroretinography in the dark (2011) (8)
- Three-year safety results of SAR422459 (EIAV-ABCA4) gene therapy in patients with ABCA4-associated Stargardt disease: An open-label dose-escalation phase I/IIa clinical trial, cohorts 1-5. (2022) (7)
- Gyrate atrophy of the choroid and retina. Approaches to therapy. (1981) (7)
- The Progression of Stargardt Disease using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15. (2021) (7)
- Serum IgM in retinitis pigmentosa: A genetic study (1978) (7)
- Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina (1985) (7)
- Vitamin A megatherapy for retinal abnormalities (1995) (7)
- Expanded Genome Scan in Extended Families with Age-Related Macular Degeneration (2006) (7)
- Molecular genetics of ornithine aminotransferase defect in gyrate atrophy. (1989) (6)
- Retinal Toxicity of Therapeutic Agents (1983) (6)
- One Year Results of a Phase I/IIa Study of SAR422459 in Patients with Stargardt Macular Degeneration (SMD) (2017) (6)
- SCLERAL PITS IN CHOROIDEREMIA: Implications for Retinal Gene Therapy (2017) (6)
- UvA-DARE ( Digital Academic Repository ) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus ( BBS 1 ) (2003) (6)
- Prevalence of Mutations in the RPE65, CRX, AIPL1, TULP1, GUCY2D and CRB1 Genes in Leber Congenital Amaurosis (2003) (5)
- Joubert syndrome surviving to adulthood associated with a progressive movement disorder (2007) (5)
- Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis (2021) (5)
- Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram (Opthalmic Genetics (2007) 28, (135-142)) (2007) (5)
- Dysregulation of Retinal Transcription Factor PRDM13 and North Carolina Macular Dystrophy. (2016) (5)
- Evidence that FIBL-6 is the ARMD1 Gene (2003) (5)
- TIMP3 expression in the human retina and choroid (1996) (4)
- New Technologies for Outcome Measures in Retinal Disease: Review from the European Vision Institute Special Interest Focus Group (2019) (4)
- Recommendations of the American Academy of Ophthalmology Task Force on Genetic Testing (2012) (4)
- A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants (2019) (4)
- Characterization of Retinal Function Using Microperimetry-Derived Metrics in Both Adults and Children With RPGR-Associated Retinopathy (2021) (4)
- Early findings in a Phase I/IIa clinical program for Usher syndrome 1B (USH1B; MIM #276900) (2015) (4)
- Incidence of Drusen-like Changes in a Rhesus Monkey Colony: Effects of Age, Gender and Dietary Carotenoids (2003) (4)
- A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy (1992) (4)
- Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia (2022) (3)
- Molecular basis of ornithine aminotransferase defect in gyrate atrophy. (1991) (3)
- Normal α-L-Fucosidase and Other Lysosomal Enzyme Activities in Progressive Cone Dystrophy (1988) (3)
- Selected causes of blindness in infants and children (1981) (3)
- Age-related Macular Degeneration: A Genome-wide Scan in Extended Families (2003) (3)
- Modeling and Analysis of the Hill of Vision of Full-Field Static Perimetry (2009) (2)
- Correlation of Outer Retinal Degeneration and Choriocapillaris Loss in Stargardt disease using en face OCT and OCT Angiography (2019) (2)
- Electrophysiologic Testing in Disorders of the Retina, Optic Nerve, and Visual Pathway (1991) (2)
- A Unique Case of Autoimmune Retinopathy Associated with Anti-Alpha-Enolase Antibodies (2011) (2)
- Prediction of Retinal Phenotype and Progression Based on Autoantibody Profile in Paraneoplastic and Autoimmune Retinopathy (2008) (2)
- Comparison of the New German Adaptive Threshold Estimation (GATE) Strategy With Conventional Static Threshold Estimating Perimetry and With the SITA Procedure (2007) (2)
- ect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein de W ciency (2005) (2)
- TRISOMY 21 OR 22 IN DOWN'S SYNDROME ? (1967) (2)
- A Histopafhologic Study of a Choroideremio Carrier (1990) (2)
- Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (2012) (2)
- Comparison of interpolation algorithms for static visual field data (2015) (2)
- X-Linked Recessive Mutations in Simplex Males With Retinitis Pigmentosa (2010) (2)
- Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree (2021) (2)
- Molecular advances in retinitis pigmentosa. (1991) (2)
- Electrophysiological evaluation of children with visual impairment. (1991) (2)
- Extracellular Matrix Dysfunction in Sorsby Patient-Derived Retinal Pigment Epithelium (2021) (1)
- Lentiviral Vector Gene Replacement Therapy in Stargardt Disease and Usher Syndrome type Ib (2012) (1)
- Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy This article has been corrected since Advance Online Publication and a corrigendum is also printed in this issue (2012) (1)
- Mutation Analysis in a Cohort of CSNB Patients: Novel Mutations in TRPM1 Gene (2010) (1)
- Age-Corrected Normative Data for the Entire (80 Degree) Visual Field, Assessed With a New Fast Thresholding Estimation (GATE) (2009) (1)
- Primary Photoreceptor Degenerations: Retinitis Pigmentosa (2010) (1)
- New Technologies for Outcome Measures in Glaucoma: Review by the European Vision Institute Special Interest Focus Group (2020) (1)
- Disease-Causing Mutations in the RPE65 Gene Abolish Retinoid Isomerase Activity (2007) (1)
- Extracellular matrix dysfunction in Sorsby patient-derived retinal pigment epithelium. (2021) (1)
- Electroretinographic findings in transplant chorioretinopathy (2010) (1)
- Optical Coherence Tomography Angiography in Choroideremia Correlating Choriocapillaris LossWith Overlying Degeneration (2016) (1)
- Electroretinographic genotype-phenotype correlations for mouse and man at the dmd/DMD locus (1994) (1)
- Test-Retest Variability of Functional and Structural Parameters in patients with ABCA4-related retinopathy (2016) (1)
- Mild mental retardation with unusual features including cataracts, hyperostosis frontalis interna, oligomenorrhea, and dislocating patellae (MR/CHOP) (1976) (1)
- Exon screening of the genes encoding the β- and γ-subunits of cone transducin in patients with inherited retinal disease (1998) (1)
- Area Measurement of the Ellipsoid Zone (EZ) by SD-OCT and its Correlation with Visual Field Identifies a Potential Anatomical Endpoint for Clinical Trials in Retinitis Pigmentosa (RP) (2014) (1)
- Treatment of Patients with Leber Congenital Amaurosis Type 2 with an AAV Vector Expressing RPE65 (2013) (1)
- Clinical and Electrophysiologic Evaluation of a Cone Dysfunction Syndrome (2017) (1)
- Hereditary dystrophies of the choroid and retina (1979) (1)
- Functional evaluation in inherited retinal disease (2021) (1)
- INFANTILE PHYTANIC ACID STORAGE DISEASE: A DEFECT IN PHYTANIC ACID OXIDATION (1984) (1)
- Comparison Between Age-Corrected Normative Threshold Values for the Static Stimulus Sizes Goldmann III and V, Assessed With a New Fast Thresholding Estimation (GATE) (2009) (1)
- Early Treatment with Mycophenolate Mofetil Reduces Retinal Degeneration and cGMP Dysregulation in rd10 and rd1 mice (2018) (1)
- Table 1. [Summary of Molecular Genetic Testing Used in Leber Congenital Amaurosis]. (2013) (0)
- Neuroprotective Mechanisms of Dark Rearing on cGMP in rd10 mice (2020) (0)
- Muscular dystrophy dy/dy mice: Abnormal ERG suggests contribution of dystrophin-associated proteins in normal retinal electrophysiology (1996) (0)
- Projection-Resolved Optical Coherence Tomography Angiography of Retinal Plexusess in Retinitis Pigmentosa and Usher Syndrome Type 1 (2018) (0)
- Table 2. [Genes Associated with Autosomal Dominant Retinitis Pigmentosa (adRP)]. (2013) (0)
- DGGE and SSCPE screening of the gene for the gamma subunit of cone transducin in patients with cone disease (1996) (0)
- Mycophenolate mofetil is neuroprotective in a mouse model of retinitis pigmentosa (RP) (2015) (0)
- Lack of an Association Between the SOD2 Ala/Val Polymorphism and Age-related Macular Degeneration (AMD) (2002) (0)
- Software for digitization and three-dimensional volumetric measurement of Kinetic Perimetry (2018) (0)
- Book Review (2004) (0)
- A prospective pilot study of the effects of panretinal photocoagulation delivered with a multi-spot laser on retinal sensitivity and driving eligibility in patients with diabetic retinopathy (2014) (0)
- Table 7. [CRX Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- A Simulation based Approach for Detection of Retinitis Pigmentosa using Protein Synthesis (2020) (0)
- Retina Residual Foveal Cone Structure in CNGB 3-Associated Achromatopsia (2016) (0)
- Table 4. [Genes Associated with X-Linked RP (xlRP)]. (2013) (0)
- Ocular manifestations of De Lang syndrome (1975) (0)
- A network of patients with orphan retinal diseases for clinical trials: goals, structure, challenges. (2005) (0)
- Test-Retest Variability of Functional and Structural Parameters in patients with Usher Syndrome Type-1B (USH1B) (2018) (0)
- Detailed Electrophysiological and Phenotypic Analysis of Knobloch Syndrome (2007) (0)
- Assessing color vision in congenital achromatopsia (2016) (0)
- B.L. Lam Electrophysiology of Vision, Clinical Testing and Applications Taylor & Francis. London, 2005, $149.95, ISBN 0:8247-4068-8 (2006) (0)
- Normal alpha-L-fucosidase and other lysosomal enzyme activities in progressive cone dystrophy. (1988) (0)
- A Strategy for Efficient Molecular Diagnosis of Genetically Heterogeneous Autosomal Recessive Diseases (2007) (0)
- [Table, Table 5. LCA5 Pathogenic Variants Discussed in This GeneReview] (2013) (0)
- Table 8. [CRB1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Segregation analysis of ocular refraction and myopia: by G.C. Ashton, Hum Hered 35:232–239, 1985 (1987) (0)
- Strategies for Treating Inherited Retinal Degeneration With Large Genes That Are Not Amenable to Adeno-Associated Virus-Based Gene Replacement Therapy. (2021) (0)
- Table 3. [Genes Associated with Autosomal Recessive Retinitis Pigmentosa (arRP)]. (2013) (0)
- Description of the Natural History of Autosomal Dominant Retinitis Pigmentosa Caused by an Arg135Leu Mutation in Rhodopsin in a Nine Generation Family (2003) (0)
- Primary Photoreceptor Degenerations: Terminology (2010) (0)
- Table 6. [RPGRIP1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Safety Profile of the Surgical Procedure for the Administration of Ocular Gene Therapies (2017) (0)
- Erratum (1976) (0)
- Assessing Cone Structure in Achromatopsia With AOSLO and SDOCT (2016) (0)
- Comparison of Scotopic and Photopic Mouse ERGs (Electroretinogram) Under Isoflurane and Ketamine Anesthesia (2006) (0)
- Specific reading disability: Identification of an inherited form through linkage analysis (1983) (0)
- Quantification of Vision Loss in Stargardt disease using Visual Field Modeling and Analysis (2012) (0)
- Symmetry of inherited eye disease (2017) (0)
- A Screen for Mutations of the Aipl1 Gene in Patients With Supernormal Scotopic Erg B–Wave (2005) (0)
- NEW CHROMOSOMAL AND MALFORMATION SYNDROMES (1975) (0)
- Table 9. [NMNAT1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Foveal detachment in patients undergoing gene therapy for Stargardt disease (STGD1, MIM #248200) (2015) (0)
- Erratum: Mutations in the mitochondrial tRNASer(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy (European Journal of Human Genetics (2012) 20 (897-904) DOI:10.1038/ejhg.2012.44) (2012) (0)
- Table 2. [Selected CYP4V2 Pathogenic Allelic Variants]. (2012) (0)
- Panel-based Next Generation Sequencing improves mutation detection in Cone Rod Dystrophy patients (2015) (0)
- Analysis of small recessive RP families for mutations in candidate genes (1996) (0)
- Pattern dystrophy: evidence of digenic inheritance and studies of visual outcome (2004) (0)
- Table 4. [AIPL1 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Intravitreal Anti-VEGF Therapy for Choroidal Neovascularization-Associated with Best Vitelliform Macular Dystrophy (2018) (0)
- Modeling and Analysis of the Hill of Vision (HOV) in Pigmented Paravenous Retinochoroidal Atrophy (PPRCA) Using Full-Field Static Perimetry (2010) (0)
- Hand-Held Spectral-Domain Optical Coherence Tomography In The Evaluation Of Pediatric Patients With Congenital Nystagmus (2011) (0)
- Table 11. [RD3 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Table 1. [Causes of Nonsyndromic Retinitis Pigmentosa by Mode of Inheritance]. (2013) (0)
- OCT angiography provides insights into choroideremia pathology (2015) (0)
- A Molecular Screening Test for Usher Syndrome (2009) (0)
- Volumetric assessment of scotopic visual field sensitivity in retinitis pigmentosa (2017) (0)
- Mouse ERG (Electroretinogram) Is Not Affected by Use of Isoflurane versus Ketamine Anesthetic (2006) (0)
- Table 3. [SPATA7 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Identification of choriocapillaris in choroideremia using optical coherence tomography angiography (2016) (0)
- Autoimmune Retinopathies From Antibodies Against Arrestin, Calbindin, Rhodopsin Kinase, And Carbonic Anhydrase (2006) (0)
- Dark-rearing reduces degeneration and alters the characteristics of cGMP dysregulation in rd10 mice (2018) (0)
- Effects of Isoflurane and Ketamine Anesthesia on Murine Photopic and Scotopic Electroretinograms (ERGs) (2004) (0)
- Phenotype - Genotype Correlation in Patients With Retinal Degenerations (2009) (0)
- Test-Retest Variability for Semi-Automated Kinetic Perimetry and GATE Static Perimetry in Retinitis Pigmentosa (2013) (0)
- Outer Retinal Tubulations in Boucher-Neuhauser Syndrome (2018) (0)
- Retinal Analysis of a Female Symptomatic Carrier of Choroideremia (2007) (0)
- Author reply: To PMID 22944025. (2013) (0)
- Next Generation Sequencing in Pigmented Paravenous Retinochoroidal Atrophy (2018) (0)
- Chronic Severe Periorbital Edema (1976) (0)
- Table 10. [CEP290 Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- Genotype-phenotype correlation in retinopathy associated with mitochondrial trifunctional protein disorders: Long-term follow-up of 21 cases (2015) (0)
- Contents Vol. 63, 2007 (2007) (0)
- A Method for Deducing the Pathogenic Contribution of Individual Recessive Disease Alleles (2009) (0)
- The Importance of Chromosomal Studies in Ophthalmology (1984) (0)
- Characteristic electroretinographic findings in quinine retinal toxicity (1996) (0)
- Recommendations for Genetic Testing of Inherited Eye Diseases-aao-recommendaiton-on-genetic-testing-12-11-09(1) (2014) (0)
- Table 2. [GUCY2D Pathogenic Variants Discussed in This GeneReview]. (2013) (0)
- A Novel Mutation in the Complement Factor H Gene in a Family With Age-Related Macular Degeneration (2007) (0)
- Improved Rod Sensitivity as Assessed by Two-Color Dark-Adapted Perimetry in Patients With RPE65-Related Retinopathy Treated With Voretigene Neparvovec-rzyl (2023) (0)
- Comparison of nonparametric methods for static visual field interpolation (2016) (0)
- Table 1. [Summary of Molecular Genetic Testing Used in Bietti Crystalline Dystrophy]. (2012) (0)
- Slow Insensitive Scotopic Responses in Three Children With Leber Congenital Amaurosis (LCA): A New Electroretinogram (ERG) Phenotype? (2009) (0)
- Subject Index Vol. 63, 2007 (2007) (0)
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