Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria
- Conditions
- Complications
- Interventions
- Procedure: Lensectomy and vitrectomy
- Registration Number
- NCT06545305
- Lead Sponsor
- King Fahad Armed Forces Hospital
- Brief Summary
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.
- Detailed Description
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
Recruitment & Eligibility
- Status
- ENROLLING_BY_INVITATION
- Sex
- All
- Target Recruitment
- 6
- 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)
- Patients with incomplete investigations for various reasons
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Arm && Interventions
Group Intervention Description Patients with Homocystinuria Lensectomy and vitrectomy Homocystinuria patients with Ocular complications
- Primary Outcome Measures
Name Time Method Autoref reading After one year Refractory errors
- Secondary Outcome Measures
Name Time Method
Trial Locations
- Locations (1)
King Fahad Armed Forces Hospital
🇸🇦Jeddah, Saudi Arabia