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R. Horn, L. Wang, S. Duan, Y. Zhao, Z. Yang, S. Kamaya, Y. Chen, K. Zhang; Clinical and Genetic Studies of Autosomal Dominant Ocular Coloboma . Invest. Ophthalmol. Vis. Sci. 2006;47(13):3283.
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Ocular coloboma is a congenital abnormality caused by defective closure of the embryonic fissure of the optic cup. The defect is typically located in the inferior part of the eye. Iris, retina, RPE, choroid, and optic nerve can be affected. OCular colobomas may be associated with systemic diseases such as, CHARGE syndrome, Trisomy 13, 18 and 22 as well as Klinefelter's syndrome among many others. The purpose of this study is to describe clinical features and conduct genetic mapping of familial ocular coloboma.
A large Chinese family with an autosomal dominant form of ocular coloboma was investigated. Ophthalmologic examination and fundus
photography were performed. Genotyping with STR markers linked to known loci/genes associated ocular coloboma was carried out. Candidate loci included WNT6, WNT10, VAX2, SHH, PAX2,VAX1, PAX6, CHX10 on the regions of chromosomes 2, 7, 10, 11, 12, and 14 respectively.
There were eight affected individuals spanning three generations. Eighteen family members were examined clinically and DNA collected for genetic analysis. VA ranged from 20/20 to 20/200. Affected patients were found to have colobomas of the iris, retina, RPE, choroid, and optic nerve inferiorly. In this family, optic nerve coloboma was the most consistent finding. No other systemic malformations were observed. Linkage to candidate loci VAX2, SHH, PAX2,VAX1, PAX6, CHX10 were excluded.
Our results suggest a novel locus causing an autosomal dominant form of ocular coloboma. Genome wide scan is in progress to map this disease gene. Identification of a gene for ocular coloboma will provide valuable insight into ocular development and aid development of therapies.
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