DR. RAHUL KUMAR

DR. VIBHA SINGH, DR. AMIT KUMAR, DR. LOKESH MEHLA

Abstract

Introduction- Homocystinuria is a metabolic disorder caused by a deficiency of cystathionine beta-synthase with autosomal recessive inheritance. Clinically it is characterized by lens subluxation, skeletal abnormalities, and thromboembolic accidents.

Observation- A 9-year-old boy presented to OPD with complaint of eye ache in left eye without being exposed to trauma. On examination anterior dislocation of lens into anterior chamber was observed in one eye. Patient visited next day with subsequent dislocation of lens of another eye into anterior chamber. On history, clinical examination and relevant investigation patient was diagnosed with Homocystinuria.

Conclusion: In homocystinuria due to zonular disintegrations, lens dislocation is usually bilateral and symmetric. Complete anterior lens dislocation in these patients is an ophthalmic emergency and the dislocated lens must be removed as soon as possible to prevent subsequent ocular complications.