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

Michalis Georgiou, Kaoru Fujinami, Ajoy Vincent, Fadi Nasser, Samer Khateb, Mauricio E. Vargas, Alberta A.H.J. Thiadens, Emanuel R. de Carvalho, Xuan Thanh An Nguyen, Thales Antônio Cabral De Guimarães, Anthony G. Robson, Omar A. Mahroo, Nikolas Pontikos, Gavin Arno, Yu Fujinami-Yokokawa, Shaun Michael Leo, Xiao Liu, Kazushige Tsunoda, Takaaki Hayashi, Belen Jimenez-RolandoMaria Inmaculada Martin-Merida, Almudena Avila-Fernandez, Ester Carreño, Blanca Garcia-Sandoval, Carmen Ayuso, Dror Sharon, Susanne Kohl, Rachel M. Huckfeldt, Camiel J.F. Boon, Eyal Banin, Mark E. Pennesi, Bernd Wissinger, Andrew R. Webster, Elise Héon, Arif O. Khan, Eberhart Zrenner, Michel Michaelides

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


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: (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. Conclusions: 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.

Original languageEnglish (US)
Pages (from-to)1-11
Number of pages11
JournalAmerican journal of ophthalmology
StatePublished - Oct 2021

ASJC Scopus subject areas

  • Ophthalmology


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