1. KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2
- Author
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Kazushige Tsunoda, Camiel J. F. Boon, Ester Carreño, Xiao Liu, Rachel M. Huckfeldt, Mark E. Pennesi, Andrew R. Webster, Anthony G. Robson, Elise Héon, Gavin Arno, Susanne Kohl, Belen Jimenez-Rolando, Michel Michaelides, Carmen Ayuso, Omar A. Mahroo, Eyal Banin, Samer Khateb, Takaaki Hayashi, Bernd Wissinger, Arif O. Khan, Eberhart Zrenner, Alberta A H J Thiadens, Ajoy Vincent, Nikolas Pontikos, Maria Inmaculada Martin-Merida, Thales Antonio Cabral de Guimaraes, Xuan-Thanh-An Nguyen, Michalis Georgiou, Almudena Avila-Fernandez, Mauricio E Vargas, Emanuel R. de Carvalho, Shaun Michael Leo, Yu Fujinami-Yokokawa, Dror Sharon, Fadi Nasser, Kaoru Fujinami, Blanca Garcia-Sandoval, Ophthalmology, and ANS - Complex Trait Genetics more...
- Subjects
medicine.medical_specialty ,genetic structures ,Fundus Oculi ,Retina ,Foveola ,03 medical and health sciences ,chemistry.chemical_compound ,0302 clinical medicine ,Retinal Diseases ,Optical coherence tomography ,Ophthalmology ,medicine ,Humans ,Fluorescein Angiography ,Outer nuclear layer ,Retrospective Studies ,030304 developmental biology ,0303 health sciences ,Retinal pigment epithelium ,medicine.diagnostic_test ,business.industry ,Retinal ,medicine.disease ,eye diseases ,Autofluorescence ,Phenotype ,medicine.anatomical_structure ,chemistry ,Potassium Channels, Voltage-Gated ,030221 ophthalmology & optometry ,Original Article ,sense organs ,business ,Tomography, Optical Coherence ,Retinopathy - Abstract
Highlights • 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., 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. more...
- Published
- 2021