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Journal article

Clinical characterization of retinitis pigmentosa associated with variants in SNRNP200

Abstract:

Importance  SNRNP200 is a recently identified genetic cause of autosomal dominant retinitis pigmentosa (RP). However, the associated retinal phenotype is not well characterized.

Objective  To describe the retinal phenotype in patients with RP secondary to variants in SNRNP200.

Design, Setting, and Participants  This retrospective, case-series study was performed at 2 t...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Oxford college:
Merton College
Role:
Author
ORCID:
0000-0002-0424-5852
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
ORCID:
0000-0001-7373-2665
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Department of Health More from this funder
Publisher:
American Medical Association (AMA) Publisher's website
Journal:
JAMA Ophthalmology Journal website
Volume:
137
Issue:
11
Pages:
1295-1300
Publication date:
2019-09-05
Acceptance date:
2019-06-14
DOI:
EISSN:
2168-6173
ISSN:
2168-6165
Pmid:
31486839
Language:
English
Keywords:
Pubs id:
1050896
Local pid:
pubs:1050896
Deposit date:
2020-07-09

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