Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Am J Hum Genet. 2004 Oct;75(4):639-46. doi: 10.1086/424889. Epub 2004 Aug 20.


Leber congenital amaurosis (LCA), the most early-onset and severe form of all inherited retinal dystrophies, is responsible for congenital blindness. Ten LCA genes have been mapped, and seven of these have been identified. Because some of these genes are involved in the visual cycle, we regarded the retinal pigment epithelium and photoreceptor-specific retinal dehydrogenase (RDH) genes as candidate genes in LCA. Studying a series of 110 unrelated patients with LCA, we found mutations in the photoreceptor-specific RDH12 gene in a significant subset of patients (4.1%). Interestingly, all patients harboring RDH12 mutations had a severe yet progressive rod-cone dystrophy with severe macular atrophy but no or mild hyperopia.

Publication types

  • Comparative Study

MeSH terms

  • Alcohol Oxidoreductases / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Blindness / congenital
  • Blindness / genetics*
  • Chromatography, Liquid
  • DNA Mutational Analysis
  • DNA Primers
  • Humans
  • Molecular Sequence Data
  • Mutation / genetics*
  • Optic Atrophy, Hereditary, Leber / genetics*
  • Pedigree
  • Sequence Alignment


  • DNA Primers
  • Alcohol Oxidoreductases
  • RDH12 protein, human

Associated data

  • GENBANK/BC009830
  • GENBANK/BC009881
  • GENBANK/BC011727
  • GENBANK/BC016204
  • GENBANK/BC025724
  • GENBANK/BC067131
  • RefSeq/NM_015725