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J. T. Pribila, S. Tarle, C. Chou, T. Glaser, C. C. Nelson; Clinical and Genetic Analysis of Inherited Developmental Abnormalities of the Eye and Orbit in a Large Family. Invest. Ophthalmol. Vis. Sci. 2008;49(13):1718. doi: https://doi.org/.
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Congenital malformations of the eye and orbit affect 1.0-1.9 in 10,000 births. These range from anophthalmia (complete absence of the eye in the presence of normal ocular adnexa) to small defects in the anterior or posterior segments, and are frequently associated with systemic developmental syndromes. The goal of this study is to find the cause of hereditary eye defects in a large pedigree.
Linkage analysis was performed using informative DNA markers.
We have identified a six-generation family with structural disorders of the eye, including bilateral anophthalmia and isolated anterior and posterior colobomas; there are no other neurological or systemic findings. The pedigree includes several obligate mutation carriers who do not demonstrate any clinical evidence of disease, suggesting an autosomal dominant mode of inheritance with reduced penetrance. Using linkage analysis with SSLP markers, we excluded 24 candidate genes that have been associated with anophthalmia in mice or humans, including SOX2.
The mutation in this family thus involves a previously uncharacterized eye development gene. We are mapping the disease locus using a single-nucleotide-polymorphism (SNP) genotyping strategy. Understanding the genetic and molecular basis of ocular and orbital morphogenesis are essential for developing screening tests and targeted treatments for these disorders.
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