Dataset Information

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

ABSTRACT:

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.

SUBMITTER: Georgiou M

PROVIDER: S-EPMC8710866 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature

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Publications

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

Georgiou Michalis M Fujinami Kaoru K Vincent Ajoy A Nasser Fadi F Khateb Samer S Vargas Mauricio E ME Thiadens Alberta A H J AAHJ de Carvalho Emanuel R ER Nguyen Xuan-Thanh-An XT De Guimarães Thales Antônio Cabral TAC Robson Anthony G AG Mahroo Omar A OA Pontikos Nikolas N Arno Gavin G Fujinami-Yokokawa Yu Y Leo Shaun Michael SM Liu Xiao X Tsunoda Kazushige K Hayashi Takaaki T Jimenez-Rolando Belen B Martin-Merida Maria Inmaculada MI Avila-Fernandez Almudena A Carreño Ester E Garcia-Sandoval Blanca B Ayuso Carmen C Sharon Dror D Kohl Susanne S Huckfeldt Rachel M RM Boon Camiel J F CJF Banin Eyal E Pennesi Mark E ME Wissinger Bernd B Webster Andrew R AR Héon Elise E Khan Arif O AO Zrenner Eberhart E Michaelides Michel M

American journal of ophthalmology 20210315

<h4>Purpose</h4>To describe the detailed retinal phenotype of KCNV2-associated retinopathy.<h4>Study design</h4>Multicenter international retrospective case series.<h4>Methods</h4>Review of retinal imaging including fundus autofluorescence (FAF) and optical coherence tomography (OCT), including qualitative and quantitative analyses.<h4>Results</h4>Three distinct macular FAF features were identified: (1) centrally increased signal (n = 35, 41.7%), (2) decreased autofluorescence (n = 27, 31.1%), a ...[more]

PMID: 33737031

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Dataset Information

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

Purpose

Study design

Methods

Results

Conclusions

Publications

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

Similar Datasets

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