Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

King Fahad Armed Forces Hospital

Status

Invitation-only

Conditions

Complications

Treatments

Procedure: Lensectomy and vitrectomy

Study type

Observational

Funder types

Other

Identifiers

NCT06545305

Optha

King Fahd Armed Forces (Other Identifier)

Details and patient eligibility

About

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.

Full 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

Enrollment

6 estimated patients

Sex

All

Ages

20 to 30 years old

Volunteers

No Healthy Volunteers

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