Unique retinal signaling defect in GNB5 -related disease

ConclusionThis report identifies for the first time a unique retinopathy associated with biallelic mutations inGNB5. The observed phenotype is consistent with a dual retinal signaling defect reminiscent of features of bradyopsia and rod ON-bipolar dysfunction.

http://link.springer.com/10.1007/s10633-019-09735-1

Source: Documenta Ophthalmologica - November 11, 2019 Category: Opthalmology Source Type: research