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.