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J.S. Weiss, V. Theendakara, G. Tromp, S. Panchal, P. White, H. Kuivaniemi; Fine Mapping of Schnyder’s Crystalline Corneal Dystrophy . Invest. Ophthalmol. Vis. Sci. 2003;44(13):3858.
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Purpose: Schnyder's Crystalline Corneal Dystrophy(SCCD) is a bilateral corneal dystrophy characterized by subepithelial crystalline cholesterol deposits, corneal clouding and/or, arcus lipoides, which may lead to visual impairment.. A genome-wide scan with two large Finnish families of Swedish descent were used previously to map the SCCD locus to 1p34-1p36 (Sherman et al. 1996). The purpose of the current study is to refine the candidate interval and to identify putative candidate genes . Method: We undertook fine mapping by genotyping densely- spaced microsatellite markers in 10 SCCD families. Somatic cell hybrids of the affected individuals were analyzed since they allowed the unambiguous identification of the physical haplotypes in the families and the identification of the disease carrying haplotype. Results: Haplotype analyses refined the candidate interval between markers D1S2694and D1S1597. Conclusions: We have narrowed the candidate interval for SCCD to about 7Mbp.
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