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Genetic and clinical findings in an ethnically diverse cohort with Retinitis Pigmentosa associated with pathogenic variants in CERKL

Abstract:

Autosomal recessive retinitis pigmentosa is caused by mutations in over 40 genes, one of which is the ceramide kinase-like gene (CERKL). We present a case series of six patients from six unrelated families diagnosed with inherited retinal dystrophies (IRD) and with two variants in CERKL; recruited from a multi-ethnic British population. A retrospective review of clinical data in these patients was performed and included colour fundus photography, fundus autofluorescence (AF) ima...

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Publication status:
Published
Peer review status:
Peer reviewed

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Institution:
University of Oxford
Division:
MSD
Sub department:
Clinical Neurosciences
Role:
Author
ORCID:
0000-0001-7373-2665
More by this author
Role:
Author
ORCID:
0000-0001-7496-6121
Publisher:
MDPI
Journal:
Genes More from this journal
Volume:
11
Issue:
12
Article number:
1497
Pages:
1-15
Place of publication:
Switzerland
Publication date:
2020-12-12
Acceptance date:
2020-12-10
DOI:
EISSN:
2073-4425
Pmid:
33322828
Language:
English
Keywords:
Pubs id:
1150303
Local pid:
pubs:1150303
Deposit date:
2021-03-01

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