Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria in Jeddah, Saudi Arabia: A Cross-sectional Study

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.

Study Overview

• Status: Enrolling by invitation
• Conditions: Complications
• Intervention / Treatment: Procedure: Lensectomy and vitrectomy

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 Type: Observational
• Enrollment (Estimated): 6

Contacts and Locations

Study Locations

• Saudi Arabia
  • Jeddah, Saudi Arabia, 22522
    • King Fahad Armed Forces Hospital

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

The patient's records gathered from outpatient internal medicine and pediatric encounters. Six patients met study inclusion criteria. Demographic and clinical characteristics of patients were collected. Relevant clinical and ophthalmic assessments, as visual acuity, fundus examination, complications and surgery type were also obtained. Visual acuity, in-clinic dilated fundus examination, optical coherence tomography (OCT) angiography, macular OCT scan, and fundus photography were components of ophthalmic examinations. Fundus examination involved retinal inspection, visual acuity measured using tumbling E chart.

Description

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 Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with Homocystinuria; Homocystinuria patients with Ocular complications	Procedure: Lensectomy and vitrectomy; Corrections; Other Names: Scleral fixation; Grice green procedure

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Autoref reading	Refractory errors	After one year

Collaborators and Investigators

• Sponsor: King Fahad Armed Forces Hospital
• Investigators: Principal Investigator: Hassan A Ahmed, MS, Pediatric Department, King Salman Medical city-Maternity and Children, Medina, Saudi Arabia

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2024
• Primary Completion (Actual): July 1, 2024
• Study Completion (Estimated): August 30, 2024

Study Registration Dates

• First Submitted: August 1, 2024
• First Submitted That Met QC Criteria: August 6, 2024
• First Posted (Actual): August 9, 2024

Study Record Updates

• Last Update Posted (Actual): August 13, 2024
• Last Update Submitted That Met QC Criteria: August 9, 2024
• Last Verified: August 1, 2024

More Information

Terms related to this study

• Keywords: Saudi Arabia; high myopia; ocular complications; Classic Homocystinuria; Ectopia lentis
• Additional Relevant MeSH Terms: Metabolic Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Connective Tissue Diseases; Metabolism, Inborn Errors; Brain Diseases, Metabolic; Brain Diseases, Metabolic, Inborn; Amino Acid Metabolism, Inborn Errors; Hyperhomocysteinemia; Homocystinuria
• Other Study ID Numbers: Optha; King Fahd Armed Forces (Other Identifier: REC 607)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED
• IPD Plan Description: The data available with principal investigator when needed

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No