Prevalence of AIPL1 mutations in inherited retinal degenerative disease

Mol Genet Metab. 2000 Jun;70(2):142-50. doi: 10.1006/mgme.2000.3001.


Leber congenital amaurosis (LCA) is the most severe form of inherited retinal dystrophy and the most frequent cause of inherited blindness in children. LCA is usually inherited in an autosomal recessive fashion, although rare dominant cases have been reported. One form of LCA, LCA4, maps to chromosome 17p13 and is genetically distinct from other forms of LCA. We recently identified the gene associated with LCA4, AIPL1 (aryl-hydrocarbon interacting protein-like 1) and identified three mutations that were the cause of blindness in five families with LCA. In this study, AIPL1 was screened for mutations in 512 unrelated probands with a range of retinal degenerative diseases to determine if AIPL1 mutations cause other forms of inherited retinal degeneration and to determine the relative contribution of AIPL1 mutations to inherited retinal disorders in populations worldwide. We identified 11 LCA families whose retinal disorder is caused by homozygous or compound heterozygous AIPL1 mutations. We also identified affected individuals in two apparently dominant families, diagnosed with juvenile retinitis pigmentosa or dominant cone-rod dystrophy, respectively, who are heterozygous for a 12-bp AIPL1 deletion. Our results suggest that AIPL1 mutations cause approximately 7% of LCA worldwide and may cause dominant retinopathy.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Blindness / genetics
  • Blindness / pathology
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • DNA Primers / chemistry
  • Exons
  • Eye Proteins
  • Female
  • Humans
  • Introns
  • Male
  • Mutation*
  • Optic Atrophies, Hereditary / genetics
  • Optic Atrophies, Hereditary / pathology
  • Pedigree
  • Phenotype
  • Photoreceptor Cells, Vertebrate / pathology
  • Polymorphism, Single-Stranded Conformational
  • Prevalence
  • Retinal Degeneration / genetics*
  • Retinal Degeneration / pathology
  • Sequence Analysis, DNA


  • AIPL1 protein, human
  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • DNA Primers
  • Eye Proteins