Abstract

Background:
Homocystinuria is a rare autosomal recessive disorder caused by cystathionine β-synthase deficiency, leading to elevated homocysteine levels and connective tissue fragility. Ocular manifestations include ectopia lentis, microspherophakia, and secondary complications such as glaucoma and corneal scarring. Early ophthalmologic recognition is critical for diagnosis and management.
Case Presentation:
This case series included three pediatric siblings (two males and one female) presenting with bilateral lens subluxation and microspherophakia. All underwent detailed ophthalmologic evaluation and were managed surgically according to lens position and zonular integrity.
Two patients with anteriorly dislocated lenses underwent minimally invasive intralenticular lens aspiration using a 25–27G needle followed by retropupillary Artisan intraocular lens implantation. Both achieved stable lens fixation and postoperative visual acuity of 6/18. The third patient, with anterior lens subluxation and corneal scarring, was treated with the sutureless intrascleral fixation (Yamane) technique, achieving uncorrected visual acuity of 6/9 postoperatively. No intraoperative or long-term complications were observed. Biochemical testing confirmed elevated plasma homocysteine levels in all cases.
Conclusion:
Homocystinuria-associated microspherophakia requires early detection and individualized surgical planning. Fine-needle intralenticular aspiration and modern intraocular lenses (IOL) fixation techniques, such as retropupillary iris-claw and Yamane scleral fixation, provide effective, stable visual rehabilitation in the absence of capsular support. Genetic counseling and multidisciplinary follow-up are essential for optimal long-term outcomes.

Key words: Homocystinuria, microspherophakia, lens dislocation, ectopia lentis, case series.