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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.