Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

NCT06545305 — Unknown, 6 participants, King Fahad Armed Forces Hospital

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

Registry	NCT06545305
Status	Unknown
Study type	Observational
Enrollment	6 (Estimated)
Sponsor	King Fahad Armed Forces Hospital (Other gov)
Conditions	Complications
Interventions	Lensectomy and vitrectomy (Procedure)
Dates	start 2024-01-01, primary completion 2024-07-01, completion 2024-08-30 (estimated), first posted 2024-08-09, last updated 2024-08-13
Locations	1 site in Saudi Arabia

-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.

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+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

+Arms and interventions

Arm	Type	Interventions	Description
Patients with Homocystinuria		Procedure: Lensectomy and vitrectomy	Homocystinuria patients with Ocular complications

Lensectomy and vitrectomy (Procedure), also known as Scleral fixation, Grice green procedure: Corrections

+Outcome measures

Primary outcomes

Autoref reading [After one year]: Refractory errors

+Eligibility

Sex: All, ages: 20 Years to 30 Years

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)

Facility	City	Country	Status
King Fahad Armed Forces Hospital	Jeddah	Saudi Arabia

+Investigators

Hassan A Ahmed, MS, Principal investigator, Pediatric Department, King Salman Medical city-Maternity and Children, Medina, Saudi Arabia