title: Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation.
abstract: OBJECTIVE
  To report the longitudinal clinical course of three Japanese patients from two families with Leber congenital amaurosis/early-onset retinal dystrophy (LCA/EORD), and the results of next-generation DNA sequences on them.
  
  
  METHODS
  The patients were three Japanese children: a 4-year-old girl, a 6-year-old boy, and a 3-year-old girl. Patients 1 and 2 were siblings, and patient 3 was from an unrelated family. Standard ophthalmic examinations including perimetry, electroretinography, optical coherence tomography, and ultrasonography were performed on each patient. The patients were observed for 28, 16, and 10 years. Whole exomes of the patients and their non-symptomatic parents were analyzed using a next-generation sequence technique.
  
  
  RESULTS
  The decimal visual acuity varied between 0.07 and 0.6 at the initial visit and decreased to counting finger to hand motion in their teens. Funduscopy showed diffuse retinal and macular degeneration. During the follow-up period, a posterior staphyloma developed and the macular area became atrophic. Patient 1 developed cataracts in her early twenties. Genetic analysis revealed a homozygous A126V substitution in the RDH12 gene in all patients.
  
  
  CONCLUSIONS
  The three patients with LCA/EORD had a progressive decrease of their vision with the formation of a posterior staphyloma. This is the first report of Japanese patients with LCA/EORD with a RDH12 mutation.
authors.affiliation: Department of Ophthalmology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama City, Osaka, 589-8511, Japan, kuniyoshi-kazuki@umin.net.
authors.forename: Kazuki
authors.initials: K
authors.lastname: Kuniyoshi
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Sakuramoto
authors.forename: Kazutoshi
authors.initials: K
authors.lastname: Yoshitake
authors.forename: Kosuke
authors.initials: K
authors.lastname: Abe
authors.forename: Kazuho
authors.initials: K
authors.lastname: Ikeo
authors.forename: Masaaki
authors.initials: M
authors.lastname: Furuno
authors.forename: Kazushige
authors.initials: K
authors.lastname: Tsunoda
authors.forename: Shunji
authors.initials: S
authors.lastname: Kusaka
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D004108:Dilatation, Pathologic; D004596:Electroretinography; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D057130:Leber Congenital Amaurosis / Q000235:genetics* / Q000503:physiopathology; D008137:Longitudinal Studies; D008297:Male; D009154:Mutation; D010375:Pedigree; D012160:Retina / Q000503:physiopathology; D058499:Retinal Dystrophies / Q000235:genetics* / Q000503:physiopathology; D017422:Sequence Analysis, DNA; D035781:Siblings; D041623:Tomography, Optical Coherence; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: D000429:Alcohol Oxidoreductases; C489649:RDH12 protein, human
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