Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses

ConclusionsBiallelic loss-of-functionKCNV2 variants (p.W67X and p.D174GfsX198) were identified as the cause of CDSRR. Long-term FF-ERG findings demonstrated there were no ERG changes during 15  years of observation, indicating that there was no evidence of progressive peripheral retinal dysfunction, in spite of worsening macular atrophy.
Source: Documenta Ophthalmologica - Category: Opthalmology Source Type: research