Article
Myopia and Late-Onset Progressive Cone Dystrophy Associate to LVAVA/MVAVA Exon 3 Interchange Haplotypes of Opsin Genes on Chromosome X.
Investigative ophthalmology & visual science - 1 Mar 2017
Orosz Orsolya, Rajta István, Vajas Attila, Takács Lili, Csutak Adrienne, Fodor Mariann, Kolozsvári Bence, Resch Miklós, Sényi Katalin, Lesch Balázs, Szabó Viktória, Berta András, Balogh István, Losonczy Gergely
Abstract excerpt
Purpose: Rare interchange haplotypes in exon 3 of the OPN1LW and OPN1MW opsin genes cause X-linked myopia, color vision defect, and cone dysfunction. The severity of the disease varies on a broad scale from nonsyndromic high myopia to blue cone monochromatism. Here, we describe a new genotype-phenotype correlation attributed to rare exon 3 interchange haplotypes simultaneously present in the long- and...
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