KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

•KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes.•Disease course can be unpredictable and may severely affect children and young adults.•Findings suggest a potential window for intervention until 40 years of age,...

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Published in:	American journal of ophthalmology Vol. 230; pp. 1 - 11
Main Authors:	Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, Michaelides, Michel
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-10-2021 Elsevier Limited Elsevier Science
Subjects:	Age Asymmetry Atrophy Engineering Fluorescein Angiography Fundus Oculi Genotype & phenotype Humans Original Patients Phenotype Potassium Channels, Voltage-Gated Quantitative analysis Retina Retinal Diseases - diagnosis Retinal Diseases - genetics Retrospective Studies Tomography, Optical Coherence United Kingdom > UK Germany
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Summary:	•KCNV2-associated retinopathy is a slowly progressive disease with early retinal changes, which are predominantly symmetric between eyes.•Disease course can be unpredictable and may severely affect children and young adults.•Findings suggest a potential window for intervention until 40 years of age, albeit with variability between patients due to macular atrophy. To describe the detailed retinal phenotype of KCNV2-associated retinopathy. Multicenter international retrospective case series. Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses. Three distinct macular FAF features were identified: (1) centrally increased signal (n = 35, 41.7%), (2) decreased autofluorescence (n = 27, 31.1%), and (3) ring of increased signal (n = 37, 44.0%). Five distinct FAF groups were identified based on combinations of those features, with 23.5% of patients changing the 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 5 grades: (1) continuous ellipsoid zone (EZ) (20.5%); (2) EZ disruption (26.1%); (3) EZ absence, without optical gap and with preserved retinal pigment epithelium complex (21.6%); (4) loss of EZ and a hyporeflective zone at the foveola (6.8%); and (5) outer retina and retinal pigment epithelium 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 outer nuclear layer thickness change was similar for right and left eyes. 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 outer nuclear layer thickness is a potential biomarker. Findings suggest a potential window for intervention until 40 years of age.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0002-9394 1879-1891
DOI:	10.1016/j.ajo.2021.03.004