Genetically testing mechanisms of ocular development and disease

项目总结 眼前段发育不全(ASD)患者发生严重、 难以治疗的早发性青光眼。50%-75%的ASD患者会患上青光眼， 它发生在比普通人群年轻得多的年龄，导致不成比例的 降低了患者及其家人的生活质量。我们认为固有的血管缺陷是主要的 与眼周间充质分化缺陷不同的ASD的诱因。我们将测试 这一假设使用了高度先进的超微显微镜、创新的细胞标记方法、最先进的 纳米流体技术以及独特和互补的遗传资源。这种病因的区别 迁移和分化之间的关系可能对以下方面的患者分层有重要影响 预后，可改变的风险因素的管理，以及对潜在威胁生命的并存疾病的认识- 所有这些对遗传咨询、计划生育和患者的心理健康都很重要。

PROJECT SUMMARY Patients with ocular anterior segment dysgenesis (ASD) have a greatly elevated risk of developing severe, early onset glaucoma that is refractory to treatment. Between 50-75% of patients with ASD develop glaucoma, which occurs at significantly younger ages than in the general population, leading to disproportionately diminished quality of life for patients and their families. We propose that intrinsic vascular defects are a primary insult contributing to ASD that are distinct from defects in periocular mesenchyme differentiation. We will test this hypothesis using highly advanced ultramicroscopy, innovative cell-labeling approaches, state-of-the-art nanofluidics technologies and unique and complementary genetic resources. This etiological distinction between migration and differentiation may have significant implications for patient stratification with respect to prognosis, management of modifiable risk factors and awareness of potentially life-threatening co-morbidities – all of which are important for genetic counseling, family planning and patients' psychological well being.