A case of spherophakia-induced angle closure and retinal dysfunction in association with Klinefelter syndrome.

BACKGROUND

Klinefelter syndrome (47,XXY) commonly associated with hypogonadism, infertility, and neurocognitive deficits, has rarely reported ocular anomalies. This case highlights a novel ocular presentation of Klinefelter syndrome, emphasizing the role of ophthalmic findings in early diagnosis of genetic syndromes. CASE PRESENTATION: We describe a case of a 14-year-old male presented with acute angle-closure glaucoma secondary to spherophakia, accompanied by vitreoretinal abnormalities. Chromosomal analysis revealed a 47,XXY karyotype, consistent with Klinefelter syndrome. He underwent trabeculectomy with adjunctive topical therapy, achieving intraocular pressure control during one-year follow-up.

CONCLUSIONS

Klinefelter syndrome may present with distinctive ocular features, including spherophakia-induced angle closure and widespread retinal dysfunction, even in adolescents with subtle systemic signs. Multidisciplinary evaluation is critical for detecting latent chromosomal disorders in atypical ophthalmic presentations.