Article
[From gene to disease; Leber congenital amaurosis (LCA)].
Nederlands tijdschrift voor geneeskunde - 15 Oct 2005
Yzer S, van den Born L I, Cremers F P M, den Hollander A I
Abstract excerpt
LCA is a severe retinal dystrophy characterised by an onset of symptoms before the age of 6 months, visual acuity below 201/400, searching nystagmus, sluggish pupillary reactions and no detectable responses on electrography. The visual fields are usually not measurable. LCA is genetically heterogeneous and is usually inherited in an autosomal recessive fashion. Seven genes have been reported to be mutated in LCA...
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