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(Investigative Ophthalmology and Visual Science. 2001;42:2225-2228.)
© 2001 by The Association for Research in Vision and Ophthalmology, Inc.

Locus for Autosomal Recessive Nonsyndromic Persistent Hyperplastic Primary Vitreous

Shagufta Khaliq1, Abdul Hameed1, Muhammad Ismail1, Khalid Anwar1, Bart Leroy2, Annette M. Payne2, Shomi S. Bhattacharya2 and S. Qasim Mehdi1

1 From the Dr. A. Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan; and the 2 Department of Molecular Genetics, Institute of Ophthalmology, University College London, United Kingdom.

PURPOSE. To map the disease locus in a six-generation, consanguineous Pakistani family affected by nonsyndromic autosomal recessive persistent hyperplastic primary vitreous (arPHPV). All affected individuals had peripheral anterior synechiae and corneal opacities with variable degrees of cataract and 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. Alleles were assigned to individuals, which allowed calculation of lod scores.

RESULTS. A maximum two-point lod score of 4.07 was obtained with marker D10S1225 with no recombination. Two recombinations with marker D10S208 and D10S537 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.






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Copyright © 2001 by the Association for Research in Vision and Ophthalmology