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Homocystinuria and ocular complications - A review
Mehzabeen Rahman1, Mohita Sharma1, Pragati Aggarwal1
1Department of Ophthalmology, Tirupati Eye Center, Noida, Uttar Pradesh, India.
Indian Journal of Ophthalmology
|July 6, 2022
Summary
Homocystinuria, a rare metabolic disorder from cystathionine β-synthase deficiency, causes high homocysteine levels. Early diagnosis and diet are key to preventing severe complications like cardiovascular and neurodegenerative diseases.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Homocystinuria is a rare inherited metabolic disorder.
- It stems from deficient cystathionine β-synthase (CBS) enzyme activity.
- This leads to elevated blood and urine methionine and homocysteine levels.
Purpose of the Study:
- To review the ophthalmic manifestations of homocystinuria.
- To explore the molecular underpinnings of the disorder.
- To discuss current and potential therapeutic strategies, emphasizing prevention.
Main Methods:
- Literature review of homocystinuria.
- Analysis of ophthalmic findings.
- Examination of genetic and metabolic pathways.
- Evaluation of treatment and management strategies.
Main Results:
- Ocular complications are a significant feature of homocystinuria.
- CBS deficiency impacts multiple organ systems.
- Early intervention with a methionine-restricted diet can mitigate systemic effects.
Conclusions:
- Homocystinuria requires prompt diagnosis and management.
- Ophthalmic surveillance is crucial for affected individuals.
- Further research into novel treatments and preventive measures is warranted.
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