Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in <i>BEST1</i>-Reference-Cited by-同舟云学术

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Variable expressivity of the autosomal dominant vitreoretinochoroidopathy (ADVIRC) phenotype associated with a novel variant in BEST1

Published:2024-07-03 Issue: Volume: Page:1-6
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Mainguy Adam¹^ORCID,Dhaenens Claire Marie²,Poncet Anais²,Billaud Fanny³,Giraud Lyse³,Zanlonghi Xavier⁴,Masse Hélène³,Le Meur Guylène³

Affiliation:

1. Department of Ophthalmology, Centre Hospitalo-Universitaire d’Angers, Université d’Angers, Angers, France

2. Department of Neurobiology, Centre Hospitalo-Universitaire de Lille, Université de Lille, Lille, France

3. Department of Ophthalmology, Centre Hospitalo-Universitaire de Nantes, Université de Nantes, Nantes, France

4. Department of Ophthalmology, Hôpital Pontchaillou, Centre Hospitalo-Universitaire de Rennes, Université de Rennes, Rennes, France

Funder

funding associated

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2368797

Reference24 articles.

1. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

2. Identification of the gene responsible for Best macular dystrophy

3. Bestrophin 1 and retinal disease

4. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

5. Autosomal Dominant Vitreoretinochoroidopathy

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