Locus for autosomal recessive nonsyndromic persistent hyperplastic primaryvitreous

PURPOSE. To map the disease locus in a six-generation, consanguineous Pakis tani family affected by nonsyndromic autosomal recessive persistent hyperpl astic primary vitreous (arPHPV). All affected individuals had peripheral an terior synechiae and corneal opacities with variable degrees of cataract an d a retrolenticular white mass behind the lens. METHODS. Genomic DNA from family members was typed for alleles at more than 400 known polymorphic genetic markers, by polymerase chain reaction. Allel es were assigned to individuals, which allowed calculation of lod scores. RESULTS. A maximum two-point lod score of 4.07 was obtained with marker D10 S1225 with no recombination. Two recombinations with marker D10S208 and D10 S537 localized the disease within a region of approximately 30 centimorgans (cM). However, homozygosity across the region refined the arPHPV locus to 13 cM. CONCLUSIONS. Linkage analysis shows localization of nonsyndromic arPHPV to chromosome10q11-q21.