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Abstract #48951 Published in IGR 14-1
Klinefelter Syndrome Associated With Goniodysgenesis
Matlach J; Grehn F; Klink TJournal of Glaucoma 2013; 22: e7-e8
OBJECTIVE: We report a case of a patient with Klinefelter syndrome and glaucoma. CASE PRESENTATION: A 30-year-old patient with karyotype 47, XXY, presented with a known medical history of glaucoma. Besides reduced fertility, no characteristic physical or behavioral symptoms for Klinefelter syndrome were found on clinical examination. While both eyes were treated with topical intraocular pressure-lowering medications, an increased intraocular pressure, visual field losses, and advanced optic disc damage with a cup-disc ratio of 0.9 were assessed only in the right eye. However, gonioscopy revealed goniodysgenesis in both eyes. DISCUSSION: Klinefelter syndrome is the most common cause of male hypogonadism with a variety of clinical signs and symptoms. The principal effect is the hypogonadism predisposing to infertility and requiring testosterone replacement therapy. Several other classical features of the syndrome including mental retardation, gynecomastia, and breast cancer are described. However, the association between Klinefelter syndrome and ocular manifestations is rare. CONCLUSIONS: Glaucoma or in fact any other ocular manifestations associated with Klinefelter syndrome are rarely described. Here, we report a case of glaucoma and its treatment combining trabeculotomy and trabeculectomy in a patient with Klinefelter syndrome.
Department of Ophthalmology, University of Wuerzburg, Wuerzburg, Germany.
Full articleClassification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
9.1.3 Syndromes of Axenfeld, Rieger, Peters, aniridia (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
2.4 Anterior chamber angle (Part of: 2 Anatomical structures in glaucoma)
