Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic <i>RPGR</i> Mutation Carriers-Reference-Cited by-同舟云学术

Microperimetry and Adaptive Optics Imaging Reveal Localized Functional and Structural Changes in Asymptomatic RPGR Mutation Carriers

Published:2023-01-06 Issue:1 Volume:64 Page:3
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Roshandel Danial¹²,Lamey Tina M.¹³,Charng Jason¹⁴,Heath Jeffery Rachael C.¹⁵,McLaren Terri L.¹³,Thompson Jennifer A.³,De Roach John N.¹³,McLenachan Samuel¹²,Mackey David A.¹³,Chen Fred K.¹²³⁴⁵

Affiliation:

1. Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia

2. Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia

3. Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia

4. Department of Optometry, School of Allied Health, University of Western Australia, Western Australia, Australia

5. Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, Melbourne, Victoria, Australia

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Reference38 articles.

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2. A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3);Meindl;Nat Genet,1996

3. Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: insights into X-linked Retinitis Pigmentosa and associated ciliopathies;He;Vision Res,2008

4. Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom;Pontikos;Ophthalmology,2020

5. Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa;Churchill;Invest Ophthalmol Vis Sci,2013

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