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GENATLAS PHENOTYPE
last update : 28-05-2010
Symbol OA1
Location Xp22.2
Name albinism, ocular, type 1
Other name(s) Nettleship-Falls type ocular albinism
Corresponding gene GPR143
related resource AlbinismDatabase
Main clinical features
  • congenital nystagmus and photophobia, moderate to severe reduction of visual acuity, hypopigmentation of the retina and macromelanosomes in the skin and the eyes
  • at ERG, reduction in amplitude in the macular region consistent with anatomical studies demonstrating an underdeveloped macular region in albinism (Nusinowitz 2008)
    • Genetic determination sex linked
    Prevalence 1/50.000, mutations detected in one third of the cases of albinism
    Function/system disorder eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function result in defective intracellular transport and glycosylation, due to misfolding of the protein
    Remark(s)
  • large deletions in 50% North America < 10% Europe of the cases, with defective intracellular transport and prouning as the major cause of ocular albinism type I
  • splice site, frameshift, nonsense, missense mutations