Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease.
Invest. Ophthalmol. Vis. Sci., 53(13):8232-7 (2012)
Recommendations for genetic testing of inherited eye diseases: report of the american academy of ophthalmology task force on genetic testing.
Ophthalmology., Nov;119(11):2408-10 (2012)
Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis.
Nat. Genet., Sep;44(9):972-4 (2012)
Bietti Crystalline Dystrophy
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Mol. Genet. Metab., May;106(1):18-24 (2012)
Mutations in the mitochondrial tRNA Ser(AGY) gene are associated with deafness, retinal degeneration, myopathy and epilepsy.
Eur. J. Hum. Genet., Aug;20(8):897-904 (2012)
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Hum. Mutat., Mar;33(3):457-66 (2012)
Variability in isopter position and fatigue during semi-automated kinetic perimetry.
Ophthalmologica., 227(3):166-72 (2012)
Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.
Invest. Ophthalmol. Vis. Sci., Dec;52(13):9665-73 (2011)
Residual electroretinograms in young Leber congenital amaurosis patients with mutations of AIPL1.
Invest. Ophthalmol. Vis. Sci., Oct;52(11):8166-73 (2011)
Acute macular outer retinopathy (AMOR): a reappraisal of acute macular neuroretinopathy using multimodality diagnostic testing.
Arch. Ophthalmol., Mar;129(3):365-8 (2011)
Retinal toxicity associated with hydroxychloroquine and chloroquine: risk factors, screening, and progression despite cessation of therapy.
Arch. Ophthalmol., Jan;129(1):30-9 (2011)
A unique case of autoimmune retinopathy associated with anti-alpha-enolase antibodies.
Case Rep Ophthalmol Med., 2011:371324 (2011)
The 'dark' side of sedation: 12 years of office-based pediatric deep sedation for electroretinography in the dark.
Paediatr Anaesth., Jan;21(1):65-71 (2011)
Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa.
Am. J. Hum. Genet., Nov;87(5):643-54 (2010)
The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis.
Invest. Ophthalmol. Vis. Sci., Jan;52(1):292-302 (2011)
Electroretinographic findings in transplant chorioretinopathy.
Clin Ophthalmol., 4:777-83 (2010)
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children.
Genet. Med., Aug;12(8):512-6 (2010)
International Federation of Clinical Neurophysiology: recommendations for visual system testing.
Clin Neurophysiol., Sep;121(9):1393-409 (2010)
Leber Congenital Amaurosis
High-resolution optical coherence tomography shows new aspects of Bietti crystalline retinopathy.
Retina (Philadelphia, Pa.)., Mar;30(3):531-2 (2010)
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Ophthalmology., Jun;117(6):1190-8 (2010)
Molecular biomarkers for autoimmune retinopathies: significance of anti-transducin-alpha autoantibodies.
Exp. Mol. Pathol., Dec;87(3):195-203 (2009)
Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.
Arch. Ophthalmol., Jul;127(7):913-20 (2009)
Predicting the pathogenicity of RPE65 mutations.
Hum. Mutat., Aug;30(8):1183-8 (2009)
Retinal effects of 6 months of daily use of tadalafil or sildenafil.
Arch. Ophthalmol., Apr;127(4):367-73 (2009)
Comparison of the new perimetric GATE strategy with conventional full-threshold and SITA standard strategies.
Invest. Ophthalmol. Vis. Sci., Jan;50(1):488-94 (2009)
Polymorphisms in C2, CFB and C3 are associated with progression to advanced age related macular degeneration associated with visual loss.
J. Med. Genet., May;46(5):300-7 (2009)
Combined retinal hamartomas leading to the diagnosis of neurofibromatosis type 2.
Ophthalmic Genet., Sep;29(3):133-8 (2008)
Choroideremia: analysis of the retina from a female symptomatic carrier.
Ophthalmic Genet., Sep;29(3):99-110 (2008)
Discordant phenotypes in fraternal twins having an identical mutation in exon ORF15 of the RPGR gene.
Arch. Ophthalmol., Mar;126(3):379-84 (2008)
Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.
PLoS ONE., 2(11):e1197 (2007)
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram.
Ophthalmic Genet., Sep;28(3):135-42 (2007)
Isoflurane is an effective alternative to ketamine/xylazine/acepromazine as an anesthetic agent for the mouse electroretinogram.
Doc Ophthalmol., Nov;115(3):187-201 (2007)
Conorenal dysplasia: a syndrome of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur.
Am. J. Med. Genet. A., Oct;143A(20):2444-7 (2007)
Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.
Am. J. Med. Genet. A., Jun;143A(11):1218-22 (2007)
The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.
Hum. Hered., 63(3-4):212-8 (2007)
Molecular testing for hereditary retinal disease as part of clinical care.
Arch. Ophthalmol., Feb;125(2):252-8 (2007)
Joubert syndrome surviving to adulthood associated with a progressive movement disorder.
Mov. Disord., Jan;22(2):262-5 (2007)
Expanded genome scan in extended families with age-related macular degeneration.
Invest. Ophthalmol. Vis. Sci., Dec;47(12):5453-9 (2006)
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.
Am. J. Hum. Genet., Dec;77(6):1021-33 (2005)
A network of patients with orphan retinal diseases for clinical trials: goals, structure, challenges.
Retina (Philadelphia, Pa.)., Dec;25(8 Suppl):S66-S67 (2005)
Inherited and orphan retinal diseases: phenotypes, genotypes, and probable treatment groups.
Retina (Philadelphia, Pa.)., Dec;25(8 Suppl):S4-S7 (2005)
Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.
Retina (Philadelphia, Pa.)., Sep;25(6):772-7 (2005)
Genetic and phenotypic heterogeneity in pattern dystrophy.
Br J Ophthalmol., Sep;89(9):1115-9 (2005)
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
Arch. Ophthalmol., Aug;123(8):1146-9 (2005)
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.
Mol. Genet. Metab., 86(1-2):124-33 (2005 Sep-Oct)
Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).
Am. J. Ophthalmol., Aug;140(2):267-74 (2005)
HEMICENTIN-1 (FIBULIN-6) and the 1q31 AMD locus in the context of complex disease: review and perspective.
Ophthalmic Genet., Jun;26(2):101-5 (2005)
Clinical and electrophysiologic characterization of paraneoplastic and autoimmune retinopathies associated with antienolase antibodies.
Am. J. Ophthalmol., May;139(5):780-94 (2005)
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes.
Mol. Genet. Metab., Feb;84(2):176-88 (2005)
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Eur. J. Hum. Genet., Mar;13(3):302-8 (2005)
Electroretinographic findings in patients with Stargardt disease and fundus flavimaculatus.
Retina (Philadelphia, Pa.)., Dec;24(6):920-8 (2004)
Genotype-phenotype correlation in a family with Arg135Leu rhodopsin retinitis pigmentosa.
Br J Ophthalmol., Dec;88(12):1533-7 (2004)
Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease).
Mol. Genet. Metab., 83(1-2):128-37 (2004 Sep-Oct)
Distal arthrogryposis 5: a dominant syndrome of peripheral contractures and ophthalmoplegia.
Am. J. Med. Genet. A., Nov;131(1):67-70 (2004)
Multifocal electroretinographic evaluation of long-term hydroxychloroquine users.
Arch. Ophthalmol., Jul;122(7):973-81 (2004)
Autoantibodies against retinal proteins in paraneoplastic and autoimmune retinopathy.
BMC Ophthalmol., 4:5 (2004)
Clinical phenotype as a prognostic factor in Stargardt disease.
Retina (Philadelphia, Pa.)., Apr;24(2):254-62 (2004)
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Am. J. Hum. Genet., May;74(5):817-26 (2004)
Treatment of retinal and choroidal degenerations and dystrophies: current status and prospects for gene-based therapy.
Ophthalmol Clin North Am., Dec;16(4):583-93, vii (2003)
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
Hum. Mol. Genet., Dec;12(24):3315-23 (2003)
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.
Am. J. Med. Genet., Dec;80(5):501-5 (1998)
The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses.
Eye (Lond)., 12 ( Pt 3b):580-90 (1998)
Malattia leventinese: refinement of the genetic locus and phenotypic variability in autosomal dominant macular drusen.
Am. J. Ophthalmol., Sep;126(3):417-24 (1998)
Exon screening of the genes encoding the beta- and gamma-subunits of cone transducin in patients with inherited retinal disease.
Mol. Vis., Sep;4:16 (1998)
Age-related macular degeneration. Clinical features in a large family and linkage to chromosome 1q.
Arch. Ophthalmol., Aug;116(8):1082-8 (1998)
Localization of dystrophin isoform Dp71 to the inner limiting membrane of the retina suggests a unique functional contribution of Dp71 in the retina.
Hum. Mol. Genet., Sep;7(9):1385-91 (1998)
OA1 mutations and deletions in X-linked ocular albinism.
Am. J. Hum. Genet., Apr;62(4):800-9 (1998)
Microcephaly with chorioretinal degeneration.
Ophthalmic Genet., Mar;19(1):39-48 (1998)
Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA.
Hum. Mol. Genet., Mar;7(3):471-4 (1998)