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Background <p>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.</p> Case presentation <p>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.</p> Conclusions <p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年10月2日

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  • Yuan Zhao,
  • Yuxin Tong,
  • Le Jin,
  • Rongrong Hu,
  • Xiaoyu Wang

摘要

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.