Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Lensectomy and vitrectomy.
- Who it may be relevant to
- Registry conditions: Complications. Basic parameters: 20 years — 30 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Saudi Arabia
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria in Jeddah, Saudi Arabia: A Cross-sectional Study
Overview
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
Interventions
- Procedure Lensectomy and vitrectomy
Corrections
Primary outcome measures
- Autoref reading [Time frame: After one year]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Case-only
Study locations
Saudi Arabia · 1 center
- King Fahad Armed Forces Hospital — Jeddah
Identifiers
NCT: NCT06545305 · Optha · King Fahd Armed Forces