Late presentation of RPE65 retinopathy in three siblings

ConclusionsRPE65 retinopathy seems to be relatively common on the Arabian peninsula, and in addition it may be underdiagnosed. To the best of our knowledge, this is the first detailed presentation, including multimodal retinal imaging and electrophysiological assessment, of such patients from this region. Patients with late presentation ofRPE65 retinopathy may be eligible for gene therapy, in terms of remaining retinal function and structural preservation. The therapeutic window of such therapy remains to be determined.

Source: Documenta Ophthalmologica - January 9, 2020 Category: Opthalmology Source Type: research