Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation

Doc Ophthalmol. 2014 Jun;128(3):219-28. doi: 10.1007/s10633-014-9436-z. Epub 2014 Apr 22.


Purpose: 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.

Patients and 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcohol Oxidoreductases / genetics*
  • Asian People / genetics
  • Child
  • Child, Preschool
  • Dilatation, Pathologic
  • Electroretinography
  • Exome / genetics
  • Female
  • Humans
  • Leber Congenital Amaurosis / genetics*
  • Leber Congenital Amaurosis / physiopathology
  • Longitudinal Studies
  • Male
  • Mutation*
  • Pedigree
  • Retina / physiopathology
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / physiopathology
  • Sequence Analysis, DNA
  • Siblings
  • Tomography, Optical Coherence
  • Visual Acuity / physiology
  • Visual Field Tests
  • Visual Fields / physiology


  • Alcohol Oxidoreductases
  • RDH12 protein, human