Incidence and Risk Factors of Ocular Complications Among Patients With Homocystinuria

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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Key information

Conditions

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

Age range

20 year–30 year

Sex eligibility

All sexes

Study type

Observational

Primary location

King Fahad Armed Forces Hospital

Jeddah, 22522, Saudi Arabia

About this study

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

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Lensectomy and vitrectomy

Procedure

Corrections

Other names: Scleral fixation, Grice green procedure

Primary outcomes

Autoref reading

Time frame: After one year

Refractory errors

Sponsors and collaborators

Lead sponsor

King Fahad Armed Forces Hospital

Other Gov

Registry information

Official study title

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

Important dates

Study start: 2024
Primary completion: 2024
Study completion: 2024
First posted: Aug 9, 2024
Registry last updated: Aug 13, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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