Khan, KN;
Carss, K;
Raymond, FL;
Islam, F;
NIHR BioResource-Rare Diseases Consortium;
Moore, AT;
Michaelides, M;
(2017)
Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
Ophthalmic Genetics
, 38
(5)
10.1080/13816810.2016.1227453.
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Abstract
Vitamin A deficiency is the leading cause of preventable blindness in children worldwide and results in a well-recognized ocular phenotype. Herein we describe a patient presenting to the eye clinic with a retinal dystrophy and ocular colobomata. This combination of clinical signs and consanguineous pedigree structure suggested a genetic basis for the disease, a hypothesis that was tested using whole genome sequencing. Bi-allelic mutations in RBP4 were identified (c.248+1G>A), consistent with a diagnosis of inherited vitamin A deficiency. We describe a constellation of signs that appear to be characteristic for this disease, increasing clinical awareness of this rare condition.
| Type: | Article |
|---|---|
| Title: | Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1080/13816810.2016.1227453 |
| Publisher version: | http://dx.doi.org/10.1080/13816810.2016.1227453 |
| Language: | English |
| Additional information: | This is an Accepted Manuscript of an article published by Taylor & Francis in Ophthalmic Genetics on 28 November 2016, available online: http://www.tandfonline.com/10.1080/13816810.2016.1227453. |
| Keywords: | Iris coloboma, RBP4, microphthalmia, serum retinol level, vitamin A deficiency, whole genome sequencing |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1530809 |
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