@article {1586168,
	title = {KCNV2-associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints - KCNV2 Study Group Report 2},
	journal = {Am J Ophthalmol},
	year = {2021},
	month = {2021 Mar 15},
	abstract = {PURPOSE: To describe the detailed retinal phenotype of\&nbsp;KCNV2-associated\&nbsp;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.},
	issn = {1879-1891},
	doi = {10.1016/j.ajo.2021.03.004},
	author = {Georgiou, Michalis and Fujinami, Kaoru and Vincent, Ajoy and Nasser, Fadi and Khateb, Samer and Vargas, Mauricio E and Thiadens, Alberta A H J and de Carvalho, Emanuel R and Nguyen, Xuan-Thanh-An and Cabral De Guimar{\~a}es, Thales Ant{\^o}nio and Robson, Anthony G and Mahroo, Omar A and Pontikos, Nikolas and Arno, Gavin and Fujinami-Yokokawa, Yu and Leo, Shaun Michael and Liu, Xiao and Tsunoda, Kazushige and Hayashi, Takaaki and Jimenez-Rolando, Belen and Martin-Merida, Maria Inmaculada and Avila-Fernandez, Almudena and Carre{\~n}o, Ester and Garcia-Sandoval, Blanca and Carmen, Ayuso and Sharon, Dror and Kohl, Susanne and Huckfeldt, Rachel M and Boon, Camiel J F and Banin, Eyal and Pennesi, Mark E and Wissinger, Bernd and Webster, Andrew R and H{\'e}on, Elise and Khan, Arif O and Zrenner, Eberhart and Michaelides, Michel}
}
