Early recognition of CLN3 disease facilitated by visual electrophysiology and multimodal imaging

ConclusionsCLN3 patients presented at median age 6.2 years with visual decline. Early onset maculopathy with an electronegative ERG and variable cognitive and motor decline should prompt further investigations including neuropaediatric evaluation and genetic assessment forCLN3 disease. The structural parameters such as EZ and FAF will facilitate ocular monitoring.

http://link.springer.com/10.1007/s10633-023-09930-1

Source: Documenta Ophthalmologica - March 25, 2023 Category: Opthalmology Source Type: research