Genotyping Microarray (Disease Chip) for Leber Congenital Amaurosis: Detection of Modifier Alleles
- 1 September 2005
- journal article
- research article
- Published by Association for Research in Vision and Ophthalmology (ARVO) in Investigative Opthalmology & Visual Science
- Vol. 46 (9) , 3052-3059
- https://doi.org/10.1167/iovs.05-0111
Abstract
Purpose. Leber congenital amaurosis (LCA) is an early-onset inherited disorder of childhood blindness characterized by visual impairment noted soon after birth. Variants in at least six genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, and RPGRIP1) have been associated with a diagnosis consistent with LCA or early-onset retinitis pigmentosa (RP). Genetically heterogeneous inheritance complicates the analyses of LCA cases, especially in patients without a family history of the disorder, and conventional methods are of limited value.Keywords
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