< em > NYX- < /em > related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism

Conclusions: Clinical and molecular analyses within the described family demonstrate the possibility of maternal mosaicism in NYX-related CSNB. The importance of cascade molecular testing is highlighted. The prospect of somatic or germline mosaicism in NYX-related CSNB informs genetic counseling, genetic testing decisions, and risk assessment in affected families.PMID:34165036 | DOI:10.1080/13816810.2021.1941129
Source: Ophthalmic Genetics - Category: Opthalmology Authors: Source Type: research