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HV Tran, C Downs, M Naganuma, R Park, B Chang, JM Liebmann, R Ritch, JE Richards; Microphthalmia, Congenital Cataract, and Secondary Glaucoma in a Family . Invest. Ophthalmol. Vis. Sci. 2002;43(13):484.
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Purpose: To use data from a single large kindred to characterize the phenotype and map the gene responsible for autosomal dominant congenital cataract and microphthalmos with associated secondary glaucoma. Methods: A pedigree was constructed through interviews with the proband and his spouse. We performed ophthalmologic evaluations and obtained blood samples for linkage analysis from the proband, his wife and all 13 of their children. The presence of more than 11 informative meioses in this consanguineous family suggests that it could be useful in a linkage study. Results: The pedigree reveals three consanguineous matings including the proband and his wife; they have a kinship coefficient of 1/12 indicating that they have 17% of their genes in common (in comparison, siblings have 50% of their genes in common and first cousins have 6% of their genes in common). The proband and 9/13 children are affected with microphthalmia and congenital cataract. The proband and five of the affected children have secondary glaucoma, and one of the children has OHT. All the affected family members had bilateral cataract extraction prior to examination. Cataracts had central dense nuclear opacity without cortex involvement. Conclusion: In this family the combination of microphthalmia and congenital cataract is transmitted in an autosomal dominant fashion with a high level of penetrance and variable expression. Secondary glaucoma is present in 7/10 affected individuals. Progress will be presented on analysis of genome scan data and mapping of the gene responsible of this syndrome in this family.
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