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. We present a 6-year-old boy who was a known case of
homocystinuria. The patient had a previous history of thrombotic cerebrovascular
infarction at the age of 3. He had mild and vague
pain in the left eye two weeks before presentation without being exposed to
trauma. Ophthalmic examination revealed the dislocation of the crystalline lens into the anterior chamber with diffuse corneal stromal
edema in the affected eye. The patient was treated with topical
atropine and
betamethasone eye drops, but due to the corneo-lenticular contact and
corneal edema, he underwent lens extraction and placement of iris-fixated
intraocular lens after 48 hours.
Corneal edema exhibited improvement at follow-up visits. Early age onset and unilateral complete
lens dislocation to the anterior chamber in the absence of a history of
trauma is a less common presentation of
homocystinuria. In patients with systemic diseases including
homocystinuria that cause zonulysis,
lens dislocation is usually symmetric and bilateral. Nevertheless, in unilateral cases especially in those who did not have any history of
trauma, evaluation for systemic diseases like
homocystinuria is necessary for early diagnosis and prevention from other systemic involvements.