TY - JOUR
T1 - KCNV2-Associated Retinopathy
T2 - Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
AU - Georgiou, Michalis
AU - Fujinami, Kaoru
AU - Vincent, Ajoy
AU - Nasser, Fadi
AU - Khateb, Samer
AU - Vargas, Mauricio E.
AU - Thiadens, Alberta A.H.J.
AU - de Carvalho, Emanuel R.
AU - Nguyen, Xuan Thanh An
AU - De Guimarães, Thales Antônio Cabral
AU - Robson, Anthony G.
AU - Mahroo, Omar A.
AU - Pontikos, Nikolas
AU - Arno, Gavin
AU - Fujinami-Yokokawa, Yu
AU - Leo, Shaun Michael
AU - Liu, Xiao
AU - Tsunoda, Kazushige
AU - Hayashi, Takaaki
AU - Jimenez-Rolando, Belen
AU - Martin-Merida, Maria Inmaculada
AU - Avila-Fernandez, Almudena
AU - Carreño, Ester
AU - Garcia-Sandoval, Blanca
AU - Ayuso, Carmen
AU - Sharon, Dror
AU - Kohl, Susanne
AU - Huckfeldt, Rachel M.
AU - Boon, Camiel J.F.
AU - Banin, Eyal
AU - Pennesi, Mark E.
AU - Wissinger, Bernd
AU - Webster, Andrew R.
AU - Héon, Elise
AU - Khan, Arif O.
AU - Zrenner, Eberhart
AU - Michaelides, Michel
N1 - Publisher Copyright:
© 2021 The Authors
PY - 2021/10
Y1 - 2021/10
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85108876875&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85108876875&partnerID=8YFLogxK
U2 - 10.1016/j.ajo.2021.03.004
DO - 10.1016/j.ajo.2021.03.004
M3 - Article
C2 - 33737031
AN - SCOPUS:85108876875
SN - 0002-9394
VL - 230
SP - 1
EP - 11
JO - American journal of ophthalmology
JF - American journal of ophthalmology
ER -