KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2-Reference-Cited by-同舟云学术

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

Published:2021-10 Issue: Volume:230 Page:1-11
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

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

Funder

Wellcome Trust

Publisher

Elsevier BV

Subject

Ophthalmology

Reference42 articles.

1. Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy;Gill;Br J Ophthalmol,2019

2. KCNV2 retinopathy: clinical features, molecular genetics and directions for future therapy;Guimaraes;Ophthalmic Genet,2020

3. Genetic basis of inherited retinal disease in a molecularly characterised cohort of over 3000 families from the United Kingdom;Pontikos;Ophthalmology,2020

4. KCNV2-associated retinopathy: genetics, electrophysiology and clinical course—KCNV2 Study Group Report 1;Georgiou;Am J Ophthalmol,2020

5. Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram;Thiagalingam;Ophthalmic Genet,2007

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