Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria in Jeddah, Saudi Arabia: A Cross-sectional Study
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 6
- 试验地点
- 1
- 主要终点
- Autoref reading
研究概览
简要总结
Background: Cysteine beta-synthase (CBS) deficiency, often known as classic homocystinuria (HCU), is an uncommon inborn mistake in methionine metabolism. Developmental delay, intellectual incapacity, skeletal and vascular symptoms, and ocular abnormalities are possible main clinical characteristics.
Objective: This study sought to describe the ocular anomalies that King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia, HCU patients presented with between 2018 and 2022.
详细描述
This retrospective research included 6 HCU patients. Demographic and clinical characteristics of patients as age, gender, comorbidities were collected. Relevant clinical and ophthalmic assessments, like visual acuity, fundus examination findings, complications and type of surgery were also reported
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Retrospective
入排标准
- 年龄范围
- 20 Years 至 30 Years（Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients from all age groups who were diagnosed with homocystinuria between 2018 and 2022 were included, regardless of whether the diagnosis was made biochemically (by exhibiting hyperhomocysteinaemia and hypermethioninaemia) or genetically (by discovering biallelic pathogenic mutations in the CBS gene)
排除标准
- •Patients with incomplete investigations for various reasons
结局指标
主要结局
Autoref reading
时间窗: After one year
Refractory errors
次要结局
未报告次要终点
研究者
Hassan A. Ahmed
Residence
King Fahad Armed Forces Hospital