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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
PubMed
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.

Keywords:
Cystathionine β-synthaseectopia lentisgeneticshomocystinuria

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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.