Bilateral lens subluxation in a patient with homocystinuria: a case report

To report a case of bilateral lens subluxation associated with homocystinuria that had been previously misdiagnosed with high myopia, amblyopia, and keratoconus.

A 19-year-old Asian female presented with progressive bilateral visual decline and hand tremors over 10 years. Slit-lamp examination, anterior segment optical coherence tomography, genetic and metabolic testing were performed to confirm the diagnosis of homocystinuria. Surgical intervention was undertaken to improve visual acuity. Anterior segment imaging documented bilateral lens subluxation and microspherophakia before and after intraocular lens suture fixation surgery. Postoperatively, her vision improved to 20/20.

This case demonstrates the importance of basic slit-lamp examination especially after cycloplegic refraction for unusual myopia progression and the need to recognize associated systemic symptoms in ophthalmic practice.