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Article

A novel homozygous c.67C>T variant in retinol binding protein 4 (RBP4) associated with retinitis pigmentosa and childhood acne vulgaris.

Ophthalmic genetics - 1 Jun 2020

Cehajic-Kapetanovic J, Jasani K M, Shanks M, Clouston P, MacLaren R E

Abstract excerpt

BACKGROUND: The retinol binding protein 4 (RBP4) is essential in delivering retinol to the retinal pigment epithelium and normal functioning of the visual cycle. Homozygous mutations in the RBP4 gene lead to severe retinitis pigmentosa that is phenotypically indistinguishable from retinitis pigmentosa caused by other recessive mutations. METHODS: Case Report. PURPOSE: To report a novel homozygous RBP4 c.67 C > T...

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Identifiers

PMID: 32323592
DOI: 10.1080/13816810.2020.1755985

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