Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

NCT06545305 | Enrolling By Invitation

• 2 other identifiers: OpthaKing Fahd Armed Forces
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 1

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.

Conditions

Complications

Keywords

ocular complications; high myopia; Saudi Arabia; Classic Homocystinuria; Ectopia lentis

Outcome Measures

Primary Outcomes (1)

• Autoref reading

  Refractory errors

  After one year

Study Arms (1)

Patients with Homocystinuria

Homocystinuria patients with Ocular complications

Procedure: Lensectomy and vitrectomy

Interventions

Lensectomy and vitrectomy PROCEDURE

Corrections

Also known as: Scleral fixation, Grice green procedure

Patients with Homocystinuria

Eligibility Criteria

• Age: 20 Years - 30 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• 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)

You may not qualify if:

• Patients with incomplete investigations for various reasons

Sponsors & Collaborators

• King Fahad Armed Forces Hospital: lead

Study Sites (1)

King Fahad Armed Forces Hospital

Jeddah, 22522, Saudi Arabia

Location

MeSH Terms

Conditions

Homocystinuria; Ectopia Lentis

Interventions

Vitrectomy

Condition Hierarchy (Ancestors)

Brain Diseases, Metabolic, Inborn; Brain Diseases, Metabolic; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Hyperhomocysteinemia; Amino Acid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Metabolic Diseases; Nutritional and Metabolic Diseases; Eye Abnormalities; Eye Diseases; Lens Subluxation; Lens Diseases; Congenital Abnormalities

Intervention Hierarchy (Ancestors)

Ophthalmologic Surgical Procedures; Surgical Procedures, Operative

Study Officials

• Hassan A Ahmed, MS

  Pediatric Department, King Salman Medical city-Maternity and Children, Medina, Saudi Arabia

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER GOV
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Residence

Study Record Dates

• First Submitted: August 1, 2024
• First Posted: August 9, 2024
• Study Start: January 1, 2024
• Primary Completion: July 1, 2024
• Study Completion: August 30, 2024
• Last Updated: August 13, 2024

Record last verified: 2024-08

Locations

SA (1)