Complications
Conditions
Keywords
ocular complications, high myopia, Saudi Arabia, Classic Homocystinuria, Ectopia lentis
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.
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
Interventions
PROCEDURELensectomy and vitrectomy
Corrections
Sponsors
King Fahad Armed Forces Hospital
Study design
Observational model
CASE_ONLY
Time perspective
RETROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
20 Years to 30 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Autoref reading | After one year | Refractory errors |
Countries
Saudi Arabia
Outcome results
None listed