Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

• Conditions: Complications

• 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

Study Timeline

• Study Start: 2024-01-01
• Primary Completion: 2024-07-01
• Status Verified: 2024-08
• Study First Submitted: 2024-08-01
• Study First Submitted QC: 2024-08-06
• Study First Posted: 2024-08-09
• Last Update Submitted: 2024-08-09
• Last Update Posted: 2024-08-13
• Study Completion: 2024-08-30

Recruitment & Eligibility

• Status: ENROLLING_BY_INVITATION
• Sex: All
• Target Recruitment: 6

Inclusion Criteria

• 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)

Exclusion Criteria

• Patients with incomplete investigations for various reasons

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Autoref reading	After one year	Refractory errors

Trial Locations

Locations (1)

King Fahad Armed Forces Hospital; 🇸🇦 Jeddah, Saudi Arabia