Cases reported "Eye Diseases, Hereditary"

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1/2. A novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease.

    PURPOSE: To identify additional mutations in the ABCR gene and describe the clinical features of four affected siblings with autosomal recessive Stargardt disease. methods: A cohort of eight siblings was identified for study. Four of these individuals were diagnosed with Stargardt disease based on clinical evaluation and fluorescein angiography. blood samples were obtained from seven of eight siblings, including all those affected. All 50 exons of the ABCR gene were analyzed by single-stranded confirmation polymorphism analysis, followed by direct sequencing of observed variants, to identify mutations in the ABCR gene. RESULTS: We identified a previously unreported kindred of eight siblings, four of whom had mutations in both of their ABCR alleles. A previously described G-to-C transversion of nucleotide 2588, predicting a Gly863Ala amino acid substitution, and a novel G-to-A transition of nucleotide 161, resulting in a Cys54Tyr substitution, were identified. These mutations co-segregated with the affected members of this family. Three of the siblings demonstrated clinical features characteristic of classic Stargardt disease, with bilateral regions of macular atrophy associated with yellow-white "flavimaculatus" flecks in the posterior pole at the level of the retinal pigment epithelium. The fourth affected sibling showed features of early Stargardt disease, with a beaten-bronze appearance to both maculas, as well as perimacular flecks. In all four affected patients, fluorescein angiography showed a characteristic peripheral dark choroid. CONCLUSIONS: We have identified both a previously described and a novel mutation in the ABCR gene in four patients with autosomal recessive Stargardt disease. In-depth knowledge of the ABCR mutation spectrum in patients with Stargardt disease will provide for more efficient screening and may provide potential therapies for Stargardt disease and other retinal diseases.
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keywords = retinal disease
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2/2. 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.
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keywords = retinal disease
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