Artikel
Leber Congenital Amaurosis Studies on phenotype and genotype
Meeting Abstract
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Veröffentlicht: | 13. Februar 2014 |
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Gliederung
Text
Objective: Leber Congenital Amaurosis (LCA) is a heterogenous group of retinal dystrophies defined as congenital or very early onset of rod-cone dystrophy. Nineteen causative genes have been identified for LCA.
Materials and Methods: In a large international database, patients diagnosed with LCA were studied with respect to clinical features, including retinal imaging and genetic aspects.
Results: An overview will be given on the phenotypes of various genotypes in LCA.
Discussion: The best preserved retinas are those of patients with RPE65, LRAT, GUCY2D and CEP290 mutations.