An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up

ConclusionsWe demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research