title: Elevation deficiency in children with recessive RDH12-related retinopathy.
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).
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
authors.forename: Amani
authors.initials: A
authors.lastname: AlBakri
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
authors.affiliation: Division of Pediatric Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Electronic address: arif.khan@mssm.edu.
authors.forename: Arif O
authors.initials: AO
authors.lastname: Khan
mesh_terms: D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D004596:Electroretinography; D005141:Eyelid Diseases / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009154:Mutation; D012029:Refraction, Ocular / Q000502:physiology; D012160:Retina / Q000503:physiopathology*; D058499:Retinal Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology
chemical_list: D000429:Alcohol Oxidoreductases; C489649:RDH12 protein, human