Novel biallelic splice-site BBS1 variants in Bardet –Biedle syndrome: a case report of the first Japanese patient

ConclusionsThis is the first report of a BBS patient with biallelic splice-siteBBS1 variants in the Japanese population. Disparity between funduscopic and ERG findings may be a feature ofBBS1-associated rod-cone dystrophy.

http://link.springer.com/10.1007/s10633-020-09752-5

Source: Documenta Ophthalmologica - January 28, 2020 Category: Opthalmology Source Type: research