Genetic studies on some prevalent vision defects in Aligarh.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 25
- 试验地点
- 1
- 主要终点
- The study is expected to identify novel genetic mutations and provide a better understanding of the genetic and environmental factors contributing to congenital cataracts in North India.
研究概览
简要总结
India’s large, diverse population offers a unique opportunity to study the genetic basis of congenital cataracts. Regional, ethnic, and socioeconomic diversity may reveal population-specific mutations not seen globally. In North India, where genetic studies on congenital cataracts are scarce, identifying these mutations can aid early interventions and reduce childhood blindness. Current diagnostic approaches, relying on clinical examinations, fail to uncover genetic causes and limited access to genetic screening exacerbates the issue. This study aims to bridge this gap by improving diagnosis, treatment, and counseling. Findings will enhance genotype-phenotype understanding, inform healthcare strategies, and contribute to global genetic research on congenital cataracts.
研究设计
- 研究类型
- Observational
入排标准
- 年龄范围
- 0.00 Day(s) 至 18.00 Year(s)（—）
- 性别
- All
入选标准
- •Patients diagnosed with congenital cataracts, aged 0-18 years, either unilateral or bilateral, confirmed through clinical examination.
排除标准
- •Patients having a history of intrauterine infection (TORCH), toxoplasmosis, others (hepatitis B, syphilis), rubella, cytomegalovirus, Herpes simplex virus; Other ocular clinical manifestations such as glaucoma, microcephaly, micro-opthalamos, uveal coloboma, and retinal disgeneration to rule out any systemic involvement ; Maternal history of steroid uses; Trauma.
结局指标
主要结局
The study is expected to identify novel genetic mutations and provide a better understanding of the genetic and environmental factors contributing to congenital cataracts in North India.
时间窗: One Year
次要结局
- Secondary objectives include investigating familial patterns, exploring environmental interactions, & studying genetic variations across different ethnic groups.We also aim to develop genetic counseling guidelines for families at risk.(Two Years)
研究者
Mohammad Afzal
Aligarh Muslim University