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GENATLAS PHENOTYPE
last update : 07-02-2012
Symbol LCA3
Location 14q31.3
HGNC id 20423
Name Leber congenital amaurosis, type 3
Other name(s) early-onset retinal dystrophy
Corresponding gene SPATA7
related resource Retinal Information Network
Other symbol(s) EORD
Main clinical features
  • earliest form of inherited retinal dystrophy, characterized by congenital non evolutive blindness, with pendular nystagmus, moving eye movements, absent ocular pursuit and eye poking, severe photophobia and hypermetropia, normal fundus at birth followed by salt and pepper aspect of retina and typical RP, non recordable ERG (allelic to LCA11)
    • Genetic determination autosomal recessive
    Prevalence 1,7% (PMID:21310915)
    Related entries including cases of juvenile retinitis pigmentosa (PMID: 19268277)
    Function/system disorder eye
    Type disease
    Gene product
    Name spermatogenesis associated 7
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion     265_268delCTCA, L89KfsX3 1227_1229delCAC, H410del (PMID:21310915)
    nonsense     253C-T, R85X (PMID:21310915)
    nonsense     c.322C→T; p.R108X (PMID:19268277)
    frameshift     c.961dupA; p.P321TfsX326 (PMID:19268277)
    Remark(s)
  • a rare cause of autosomal recessive, severe, early-onset retinal dystrophy (EORD)
  • retina have widespread retinal pigment epithelial atrophy, with minimal pigment migration into the neurosensory retina. Fundus autofluorescence imaging showed a parafoveal annulus of increased autofluorescence. High-definition optical coherence tomography showed preservation of the inner segment/outer segment junction at the fovea (PMID:21310915))