Article
Elevation deficiency in children with recessive RDH12-related retinopathy.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Dec 2015
AlBakri Amani, Alkuraya Fowzan S, Khan Arif O
Abstract excerpt
Children with retinal dystrophies often have nonspecific strabismus, but vertical incomitant deviations are uncommon. We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
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