Elevation deficiency in children with recessive RDH12-related retinopathy

J AAPOS. 2015 Dec;19(6):568-70. doi: 10.1016/j.jaapos.2015.07.281.

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).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Alcohol Oxidoreductases / genetics*
  • Child
  • Child, Preschool
  • Consanguinity
  • Electroretinography
  • Eyelid Diseases / diagnosis
  • Eyelid Diseases / genetics*
  • Eyelid Diseases / physiopathology
  • Female
  • Genes, Recessive
  • Humans
  • Male
  • Mutation*
  • Refraction, Ocular / physiology
  • Retina / physiopathology*
  • Retinal Dystrophies / diagnosis
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / physiopathology
  • Visual Acuity / physiology

Substances

  • Alcohol Oxidoreductases
  • RDH12 protein, human