Dhimas H Sakti, Elisa E Cornish, Haipha Ali, Stephanie Retsas, Marium Raza, Nonna Saakova, Livia S Carvalho, Benjamin M Nash, Robyn V Jamieson, John R Grigg
BACKGROUND: KCNV2-associated retinopathy is an autosomal recessive inherited retinal disease classically named cone dystrophy with supernormal rod response (CDSRR). This study aims to identify the best biomarker for evaluating the condition. METHODS: A retrospective review of eight patients from seven families with genetically confirmed KCNV2-associated retinopathy was performed. The best corrected visual acuity (BCVA), full-field electroretinogram (ffERG), pattern ERG (pERG), fundus imaging: retinal photograph and fundus autofluorescence (FAF), and optical coherence tomography (OCT) were analysed...
March 5, 2024: Clinical & Experimental Ophthalmology