Related Experiment Video
Updated: Aug 12, 2026

Assessment and Characterization of Hyaloid Vessels in Mice
Published on: May 15, 2019
Locus for autosomal recessive nonsyndromic persistent hyperplastic primary vitreous
1Dr. A. Q. Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan. sqmehdi@isb.comsats.net.pk
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.
Related Concept Videos
Genetic Lingo
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Glaucoma: Overview
Anatomy of the Eyeball
Photoreceptors and Visual Pathways
Diabetic Retinopathy

