Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

N/AEnrolling By InvitationNCT06545305

King Fahad Armed Forces Hospital6 enrolled

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.

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 Type

OBSERVATIONAL

Enrollment

Conditions

Complications

Interventions

Lensectomy and vitrectomyPROCEDURE

Corrections

Eligibility

Sex: ALLMin age: 20 YearsMax age: 30 Years

Medical Language ↔ Plain English

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

Locations (1)

King Fahad Armed Forces Hospital

Jeddah, Saudi Arabia

Outcomes

Primary Outcomes

Autoref reading

Refractory errors

Time frame: After one year

Data from ClinicalTrials.gov

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