Microspherophakia and Lens Subluxation in Klinefelter Syndrome: A Case Report.

Purpose: To report a rare case of microspherophakia and lens subluxation in a young patient with Klinefelter syndrome who underwent cataract surgery, emphasizing the importance of a thorough general health assessment and anamnesis prior to cataract surgery.

Methods: The case concerns a 52-year-old male referred for phacoemulsification under general anesthesia. A review of literature was performed.

Results: Preoperative assessment revealed a corticonuclear cataract in both eyes, with dislocation of the crystalline lens in the left eye in an area of zonular dehiscence. Upon careful examination, both eyes showed a microspherophakic lens with an increased lens thickness and the lens equator being visible over 360° in the left eye. The patient denied any trauma or medical conditions. His medical health record revealed the coexistence of Klinefelter syndrome (47, XXY). The association between Klinefelter syndrome and microspherophakia has only once been reported in the literature. Intraoperatively, a more cautious approach was withheld and a capsular tension ring was used. Postoperative outcome was successful with good visual outcome and no interoperative complications.

Conclusions: This case report highlights the importance of proper preoperative assessment before cataract surgery, especially in unusual cases such as early-onset cataract and/or lens subluxation. In addition, it stresses the importance of a systemic and/or genetic evaluation in patients with microspherophakia and an ophthalmological examination in patients with Klinefelter syndrome.