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Vitamin A deficiency due to bi-allelic mutation of RBP4 : There’s more to it than meets the eye.
- Source :
- Ophthalmic Genetics; Sep/Oct2017, Vol. 38 Issue 5, p465-466, 2p
- Publication Year :
- 2017
-
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 inRBP4were 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. [ABSTRACT FROM PUBLISHER]
Details
- Language :
- English
- ISSN :
- 13816810
- Volume :
- 38
- Issue :
- 5
- Database :
- Complementary Index
- Journal :
- Ophthalmic Genetics
- Publication Type :
- Academic Journal
- Accession number :
- 125775979
- Full Text :
- https://doi.org/10.1080/13816810.2016.1227453