These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Vitamin A deficiency due to bi-allelic mutation of RBP4: There's more to it than meets the eye.
    Author: Khan KN, Carss K, Raymond FL, Islam F, Nihr BioResource-Rare Diseases Consortium, Moore AT, Michaelides M, Arno G.
    Journal: Ophthalmic Genet; 2017; 38(5):465-466. PubMed ID: 27892788.
    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.
    [Abstract] [Full Text] [Related] [New Search]