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• W3118975915 abstract "Purpose: To highlight the challenge of correct reproductive and therapeutic counseling in complex pedigrees with different inherited retinal dystrophies (IRD). Methods: Two hundred eight patients diagnosed with nonsyndromic IRD underwent full ophthalmologic examination and molecular analysis using targeted next-generation sequencing. Results: Five families (4%) carried mutations in more than one gene that contribute to different IRD. Family fRPN-NB had a dominant mutation in SNRNP200 , which was present in nine affected individuals and four unaffected, and a mutation in RP2 among 11 family members. Family fRPN-142 carried a mutation in RPGR that cosegregated with the disease in all affected individuals. In addition, the proband also harbored two disease-causing mutations in the genes BEST1 and SNRNP200 . Family fRPN-169 beared compound heterozygous mutations in USH2A and a dominant mutation in RP1 . Genetic testing of fRPN-194 determined compound heterozygous mutations in CNGA3 and a dominant mutation in PRPF8 only in the proband. Finally, fRPN-219 carried compound heterozygous mutations in the genes ABCA4 and TYR . Conclusion: These findings reinforce the complexity of IRD and underscore the need for the combination of high-throughput genetic testing and clinical characterization. Because of these features, the reproductive and therapeutic counseling for IRD must be approached with caution." @default.
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• W3118975915 date "2021-09-01" @default.
• W3118975915 modified "2023-10-18" @default.
• W3118975915 title "CONCOMITANT MUTATIONS IN INHERITED RETINAL DYSTROPHIES" @default.
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• W3118975915 doi "https://doi.org/10.1097/iae.0000000000003103" @default.
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