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Journal article

Association of a novel intronic variant in RPGR with hypomorphic phenotype of x-linked retinitis pigmentosa

Abstract:

Importance: Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss.

Objective: To investigate an X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice site RPGR c.779-5T>G variant.

Design, Setting, and Participants: In...

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Publication status:
Published
Peer review status:
Peer reviewed

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More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
ORCID:
0000-0002-9956-6412
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
ORCID:
0000-0002-2941-4464
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
Publisher:
American Medical Association (AMA)
Journal:
JAMA Ophthalmology More from this journal
Publication date:
2020-09-24
DOI:
EISSN:
2168-6173
ISSN:
2168-6165
Language:
English
Keywords:
Pubs id:
1133658
Local pid:
pubs:1133658
Deposit date:
2020-09-25

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