Ontology highlight
ABSTRACT: Myopia and glaucoma are highly prevalent ophthalmic disorders worldwide and contribute significantly to ocular morbidity. There
is substantial evidence that genetic factors play a significant role in the development of non-syndromic myopia and glaucoma. We propose to
perform mapping studies for well-characterized twin populations in the United Kingdom and Australia in order to ultimately identify implicated
genes for these disorders and related ocular parameters. This will provide a fundamental molecular understanding of how these disorders
develop, and may lead to directed physiologic (i.e. pharmacologic, gene therapy) interventions. Our aim is to dissect the genetic basis of the eye disorders myopia and glaucoma. Instead of limited analyses of the trait/disease in
a dichotomous manner, we are using continuous phenotypes of measures of refraction and intermediate phenotypes of glaucoma to analyze quantitative
traits in unselected population samples of volunteer twins. Achievement of this goal requires cooperative efforts and large sample sizes.
Thus, we have created an international collaboration of large complementary studies.
PROVIDER: phs000142.v1.p1 | EGA |
REPOSITORIES: EGA
Molecular vision 20070215
<h4>Purpose</h4>Myopia is a common, complex disorder, and severe forms have implications for blindness due to increased risk of premature cataracts, glaucoma, retinal detachment, and macular degeneration. Autosomal dominant (AD) non-syndromic high-grade myopia has been mapped to chromosomes 18p11.31, 12q21-23, 17q21-23, 7q36, 2q37.1, 7p15.3, 15q12-13, 3q26, 4q12, 8p23, 4q22-q27, 1p36, and Xq23-q25. Here, we demonstrate evidence of linkage for AD non-syndromic high-grade myopia in a large Hutteri ...[more]