Victorian evolution of inherited retinal diseases natural history registry (VENTURE study): Rationale, methodology and initial participant characteristics.

Britten-Jones, Alexis Ceecee; O'Hare, Fleur; Edwards, Thomas L; Ayton, Lauren N

Britten-Jones, Alexis Ceecee; O'Hare, Fleur; Edwards, Thomas L; Ayton, Lauren N.

Afiliação

Britten-Jones AC; Department of Optometry and Vision Sciences, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia.
O'Hare F; Department of Surgery (Ophthalmology), Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia.
Edwards TL; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
Ayton LN; Department of Optometry and Vision Sciences, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, Australia.

Clin Exp Ophthalmol ; 50(7): 768-780, 2022 09.

Article em En | MEDLINE | ID: mdl-35621151

Assuntos

Distrofias Retinianas; Retinose Pigmentar; Transportadores de Cassetes de Ligação de ATP/genética; Proteínas do Olho/genética; Humanos; Mutação; Fenótipo; Estudos Prospectivos; Sistema de Registros; Distrofias Retinianas/genética; Retinose Pigmentar/genética; Estudos Retrospectivos

Palavras-chave

gene therapy; genetic disease; inherited; retinal disease; rod-cone dystrophies (retinitis pigmentosa)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Distrofias Retinianas Tipo de estudo: Guideline / Observational_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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