Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population

CONCLUSIONS: Seven different pathogenic variants in the RS1 gene were identified; with c.422 G > A (p.Arg141His) as the most frequent variant and c.531 T > G as only non-sense mutation. Having EZ or ELM disruption were the significant factors affecting VA.PMID:34865595 | DOI:10.1080/13816810.2021.2010772

Source: Ophthalmic Genetics - December 6, 2021 Category: Opthalmology Authors: Gokhan Ozan Cetin Ebru Nevin Cetin Tunahan Akyol Hatice Deniz Ilhan Gokhan Pekel Source Type: research