A Thr17Met mutation is associated with an unusual retinochoroidopathy in an autosomal dominant pedigree.

PURPOSE: To report the results of molecular genetic analysis for a proband with unusual regionalized retinochoroidopathy in an autosomal dominant pedigree originally reported as a previously undescribed condition. METHODS: Genomic DNA was obtained from the proband's leukocytes and was analyzed by Carver Laboratories at the University of Iowa (Iowa City) specifically to look for variants in genes associated with autosomal dominant retinitis pigmentosa. RESULTS: A probable high-penetrance disease-causing sequence variation in the rhodopsin gene, a heterozygous cytosine-to-thymine ACG>ATG nucleotide substitution resulting in a threonine to methionine (Thr17Met) amino acid change, was detected. This variant is associated with autosomal dominant retinitis pigmentosa. CONCLUSION: Findings of molecular genetics analysis of this unusual regionalized retinochoroidopathy support the diagnosis of a mild, delimited form of autosomal dominant retinitis pigmentosa.

Autosomal dominant pericentral retinochoroidal atrophy.

PURPOSE: To describe a family pedigree with a newly described hereditary retinal disease. METHODS: Five family members were examined, and a fifth deceased family member was identified through review of old medical records. RESULTS: Five individuals had annular or arcuate pericentral areas of retinal (younger members) or choroidal (older members) atrophy and spared maculae with good visual acuity and normal retinal periphery. Two of the four examined affected family members were symptomatic only for field loss; the other two were asymptomatic. No nyctalopia was reported by any affected individual. Fluorescein angiography revealed hyperfluorescence in the affected areas in the family members with retinal atrophy and hypofluorescence in affected areas in family members with choroidal atrophy. Visual field scotomas were dense and corresponded to the areas of retinal and/or choroidal atrophy. Full-field electroretinograms were normal for two family members and were reduced for one family member with the most advanced retinal and choroidal changes. The scotopic response was only mildly reduced in the fourth examined family member. CONCLUSIONS: We believe that we have identified a pedigree with a previously undescribed autosomal dominant hereditary retinal disease characterized by arcuate retinal and retinochoroidal atrophy and normal visual acuity.

Adult-onset foveomacular dystrophy associated with full-thickness macular hole: report of 5 cases / Distrofia viteliforme foveomacular de início na vida adulta associada a buraco macular: relato de 5 casos

Objetivo: Relatar uma série de 5 casos de distrofia viteliforme foveomacular de início na vida adulta, uma das distrofias padrão da mácula, em associação com o desenvolvimento de buraco macular. Local: Manhattan Eye, Ear & Throat Hospital, New York, NY, USA. Métodos: Relato de uma série de casos. Resultados: Cinco casos de distrofia viteliforme foveomacular de início na vida adulta, uma das distrofias padrão da mácula, desenvolveram buraco macular. Todos os 5 casos, ou 7 olhos, evoluíram com perda de visão, e em um olho foi realizada cirurgia para buraco macular e obtido sucesso anatômico (fechamento do buraco). Conclusão: Distrofia viteliforme foveomacular de início na vida adulta pode associar?se ao desenvolvimento de buraco macular e esta associação pode resultar em perda de visão.