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OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity. Expand
Effect of gene therapy on visual function in Leber's congenital amaurosis.
Three young adult patients with early-onset, severe retinal dystrophy were administered subretinal injections of recombinant adeno-associated virus vector 2/2 expressing RPE65 complementary DNA (cDNA) under the control of a human R PE65 promoter. Expand
Clinical features and natural history of von Hippel-Lindau disease.
A comprehensive screening protocol for affected patients and at-risk relatives is presented, based on detailed analysis of age at onset data for each of the major complications of von Hippel-Lindan disease. Expand
Complement C3 variant and the risk of age-related macular degeneration.
The common functional polymorphism rs2230199 in the C3 gene, corresponding to the electrophoretic variants C3S and C3F, was strongly associated with age-related macular degeneration in both the English group and the Scottish group and underscores the influence of the complement pathway in the pathogenesis of this disease. Expand
Seven New Loci Associated with Age-Related Macular Degeneration
A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Expand
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes. Expand
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11).
We report mutations in a gene (PRPF31) homologous to Saccharomyces cerevisiae pre-mRNA splicing gene PRP31 in families with autosomal dominant retinitis pigmentosa linked to chromosome 19q13.4 (RP11;Expand
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups
A mechanistic understanding of the retina-specific phenotypes in CEP290 LCA patients and potential strategies for therapeutic intervention is provided. Expand
Long-term effect of gene therapy on Leber's congenital amaurosis.
In dogs, RPE65 gene therapy with the same vector at lower doses improved vision-guided behavior, but only higher doses resulted in improvements in retinal function that were detectable with the use of ERG, and comparison with the results obtained in the dog model indicates that there is a species difference in the amount of R PE65 required to drive the visual cycle. Expand
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
The identification of CNNM4 as the causative gene for Jalili syndrome, characterized by syndromic CRD with AI, has the potential to provide new insights into the roles of metal transport in visual function and biomineralization. Expand