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Journal article

A specific macula-predominant retinal phenotype is associated with the CDHR1 variant c.783G>A, a silent mutation leading to in-frame exon skipping

Abstract:

Purpose: To report the clinical and molecular findings in patients with retinal dystrophy associated with the c.783G>A variant in CDHR1.

Methods: The retinal phenotype of 10 patients with CDHR1-related retinopathy was characterized by multimodal imaging including color fundus photography, optical coherence tomography (OCT), and blue- and near-infrared fundus autofluorescence imaging. Functional testing included electroretinography, visual acuity, a...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1167/iovs.18-26415

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
ORCID:
0000-0002-0351-6673
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Oxford college:
Merton College
Role:
Author
ORCID:
0000-0002-0424-5852
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Publisher:
Association for Research in Vision and Ophthalmology Publisher's website
Journal:
Investigative Ophthalmology & Visual Science Journal website
Volume:
60
Issue:
10
Pages:
3388-3397
Publication date:
2019-08-01
Acceptance date:
2019-06-24
DOI:
EISSN:
1552-5783
ISSN:
0146-0404
Pmid:
31387115
Language:
English
Keywords:
Pubs id:
1040132
Local pid:
pubs:1040132
Deposit date:
2020-07-09

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