Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy-Reference-Cited by-同舟云学术

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Clinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy

Published:2024-10 Issue: Volume:266 Page:255-263
ISSN:0002-9394
Container-title:American Journal of Ophthalmology
language:en
Short-container-title:American Journal of Ophthalmology

Author:

Daich Varela Malena^ORCID,Jeste Mrunmayi,de Guimaraes Thales A.C.^ORCID,Mahroo Omar A.^ORCID,Arno Gavin,Webster Andrew R.,Michaelides Michel

Funder

Wellcome Trust

University College London

UCL Institute of Ophthalmology, University College London

National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology

Moorfields Eye Hospital NHS Foundation Trust

Publisher

Elsevier BV

Reference44 articles.

1. Leber congenital amaurosis/early-onset severe retinal dystrophy: current management and clinical trials;Daich Varela;Br J Ophthalmol,2022

2. Severe visual impairment and blindness in children in the UK;Rahi;Lancet,2003

3. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions;Kumaran;Br J Ophthalmol,2017

4. Leber congenital amaurosis: genes, proteins and disease mechanisms;den Hollander;Prog Retin Eye Res,2008

5. Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis;Gerber;Eur J Hum Genet,2001

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