Abstract
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).
Copyright © 2015 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.
MeSH terms
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Adolescent
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Alcohol Oxidoreductases / genetics*
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Child
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Child, Preschool
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Consanguinity
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Electroretinography
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Eyelid Diseases / diagnosis
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Eyelid Diseases / genetics*
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Eyelid Diseases / physiopathology
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Female
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Genes, Recessive
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Humans
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Male
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Mutation*
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Refraction, Ocular / physiology
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Retina / physiopathology*
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Retinal Dystrophies / diagnosis
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Retinal Dystrophies / genetics*
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Retinal Dystrophies / physiopathology
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Visual Acuity / physiology
Substances
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Alcohol Oxidoreductases
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RDH12 protein, human