Purpose. Leber congenital amaurosis (LCA) is an autosomal recessive retinal disorder associated with severe visual loss from birth. Camuzet et al mapped the disease in five Maghrebian families to a narrow region on chromosome 17p13. They were, however, unable to find significant linkage in their families of French ancestry. The purpose of this study was to evaluate a large inbred Amish family (24 participants) with three affected members (two siblings and a cousin) to identify the locus involved in LCA in this family. Methods. A whole genome screen was initiated starting with chromosome 17p. Results. A search in the same region as that reported for the Maghrebian families using two markers, D17S938 and D17S786, within a 2.9 cM area did not show linkage; two of the affected individuals were heterozygous for the first marker and all three were heterozygous for the second. Conclusions. No linkage was found for LCA in a small region of 17p13 in this Amish family. This result is not unexpected as Waardenburg reported a family with associative mating of two affected resulting in normal offspring, suggesting genetic heterogeneity.
|Original language||English (US)|
|Journal||Investigative Ophthalmology and Visual Science|
|State||Published - Feb 15 1996|
ASJC Scopus subject areas
- Sensory Systems
- Cellular and Molecular Neuroscience