%0 Journal Article %J Am J Ophthalmol %D 2021 %T KCNV2-associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints - KCNV2 Study Group Report 2 %A Georgiou, Michalis %A Fujinami, Kaoru %A Vincent, Ajoy %A Nasser, Fadi %A Khateb, Samer %A Vargas, Mauricio E %A Thiadens, Alberta A H J %A de Carvalho, Emanuel R %A Nguyen, Xuan-Thanh-An %A Cabral De Guimarães, Thales Antônio %A Robson, Anthony G %A Mahroo, Omar A %A Pontikos, Nikolas %A Arno, Gavin %A Fujinami-Yokokawa, Yu %A Leo, Shaun Michael %A Liu, Xiao %A Tsunoda, Kazushige %A Hayashi, Takaaki %A Jimenez-Rolando, Belen %A Martin-Merida, Maria Inmaculada %A Avila-Fernandez, Almudena %A Carreño, Ester %A Garcia-Sandoval, Blanca %A Carmen, Ayuso %A Sharon, Dror %A Kohl, Susanne %A Huckfeldt, Rachel M %A Boon, Camiel J F %A Banin, Eyal %A Pennesi, Mark E %A Wissinger, Bernd %A Webster, Andrew R %A Héon, Elise %A Khan, Arif O %A Zrenner, Eberhart %A Michaelides, Michel %X PURPOSE: To describe the detailed retinal phenotype of KCNV2-associated retinopathy. STUDY DESIGN: Multicenter international retrospective case series. METHODS: Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses. RESULTS: Three distinct macular FAF features were identified: i) centrally increased signal (n=35, 41.7%), ii) DAF (n=27, 31.1%), and iii) ring of increased signal (n=37, 44.0%). Five distinct FAF groups were identified based on combinations of those characteristics, with 23.5% of patients changing FAF group over a mean (range) follow-up of 5.9 years (1.9-13.1 years). Qualitative assessment was performed by grading OCT into five grades: (i) continuous EZ (20.5%), (ii) EZ disruption (26.1%), (iii) EZ absence, without optical gap and with preserved retinal pigment epithelium (RPE) complex (21.6%); iv) loss of EZ and an hyporeflective zone at the foveola (6.8%); and (v) outer retina and RPE complex loss (25.0%). Eighty-six patients had scans available from both eyes, with 83 (96.5%) having the same grade in both eyes, and 36.1% changed OCT grade over a mean follow-up of 5.5 years. The annual rate of ONL thickness change was similar for right and left eyes. CONCLUSION: KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes. The identification of a single OCT or FAF measurement as an endpoint to determine progression that applies to all patients may be challenging; although ONL thickness is a potential biomarker. Findings suggest a potential window for intervention until 40 years of age. %B Am J Ophthalmol %8 2021 Mar 15 %G eng %1 http://www.ncbi.nlm.nih.gov/pubmed/33737031?dopt=Abstract %R 10.1016/j.ajo.2021.03.004