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GENATLAS PHENOTYPE
last update : 31/07/2011
Symbol LCA4
Location 17p13.1
Name Leber congenital amaurosis, type 4
Corresponding gene AIPL1
Main clinical features
  • severe visual acuity loss early in life, nondetectable electroretinograms (ERGs), and little or no detectable visual fields (PMID:20702822))
  • pendular nystagmus, anterior keratoconus, roving eye movements, absent ocular pursuit and eye poking, severe photophobia, hypermetropia, normal fundus at birth followed by salt and pepper aspect of retina and typical RP
  • profound loss of foveal as well as extrafoveal photoreceptors (PMID:20702822))
  • Genetic determination autosomal recessive
    Related entries . atypical cases with dilated retinal vessels, mainly venules, primarily localised in the posterior pole
    Function/system disorder eye
    Type disease
    Gene product
    Name arylhydrocarbon interacting protein-like1
    Remark(s) some of the disease-associated mutant proteins are nonfunctional because they are insoluble and are degraded by the cell, other mutations appear to have a more localised effect on secondary structure, which does not result in insolubility or affect protein targeting, but reduces the stability of the protein at body temperature.