Clinical, genetic and biochemical signatures of RBP4-related ocular malformations

Vitamin A plays a crucial role in both eye development during pregnancy and function in adulthood. Mutations in the gene encoding its blood transporter, named RBP4, have been associated with two rare conditions: recessive degeneration of retina and dominant malformations of ocular globe. We report here 7 new families (13 individuals) with eye malformations caused by RBP4 mutations. Their description allowed us to better characterize the clinical signs, mutation type, inheritance pattern and biochemical signature associated with RBP4 mutations. Moreover, we propose a novel hypothesis to explain the mechanism underlying the two different ophthalmological conditions associated with different RBP4 mutations. (By Bertrand Chesneau, )

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