KCNV2-associated retinopathy: detailed retinal phenotype and structural endpoints-KCNV2 study group report 2

Georgiou, M.; Fujinami, K.; Vincent, A.; Nasser, F.; Khateb, S.; Vargas, M.E.; Thiadens, A.A.H.J.; Carvalho, E.R. de; Nguyen, X.T.A.; Guimaraes, T.A.C. de; Robson, A.G.; Mahroo, O.A.; Pontikos, N.; Arno, G.; Fujinami-Yokokawa, Y.; Leo, S.M.; Liu, X.; Tsunoda, K.; Hayashi, T.; Jimenez-Rolando, B.; Martin-Merida, M.I.; Avila-Fernandez, A.; Carreno, E.; Garcia-Sandoval, B.; Ayuso, C.; Sharon, D.; Kohl, S.; Huckfeldt, R.M.; Boon, C.J.F.; Banin, E.; Pennesi, M.E.; Wissinger, B.; Webster, A.R.; Heon, E.; Khan, A.O.; Zrenner, E.; Michaelides, M.

doi:doi:10.1016/j.ajo.2021.03.004

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...Show morePURPOSE: 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. (C) 2021 The Authors. Published by Elsevier Inc.Show less

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KCNV2-associated retinopathy: detailed retinal phenotype and structural endpoints-KCNV2 study group report 2