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Klinefelter syndrome associated with goniodysgenesis.

Abstract

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.

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  • Publisher Full Text
  • Authors+Show Affiliations

    ,

    Department of Ophthalmology, University of Wuerzburg, Wuerzburg, Germany. juliane.matlach@gmx.de

    ,

    Source

    Journal of glaucoma 22:5 pg e7-8

    MeSH

    Adult
    Anterior Eye Segment
    Antihypertensive Agents
    Combined Modality Therapy
    Eye Abnormalities
    Glaucoma
    Gonioscopy
    Humans
    Intraocular Pressure
    Klinefelter Syndrome
    Male
    Trabeculectomy

    Pub Type(s)

    Case Reports
    Journal Article

    Language

    eng

    PubMed ID

    22274665

    Citation

    Matlach, Juliane, et al. "Klinefelter Syndrome Associated With Goniodysgenesis." Journal of Glaucoma, vol. 22, no. 5, 2013, pp. e7-8.
    Matlach J, Grehn F, Klink T. Klinefelter syndrome associated with goniodysgenesis. J Glaucoma. 2013;22(5):e7-8.
    Matlach, J., Grehn, F., & Klink, T. (2013). Klinefelter syndrome associated with goniodysgenesis. Journal of Glaucoma, 22(5), pp. e7-8. doi:10.1097/IJG.0b013e31824477ef.
    Matlach J, Grehn F, Klink T. Klinefelter Syndrome Associated With Goniodysgenesis. J Glaucoma. 2013;22(5):e7-8. PubMed PMID: 22274665.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Klinefelter syndrome associated with goniodysgenesis. AU - Matlach,Juliane, AU - Grehn,Franz, AU - Klink,Thomas, PY - 2012/1/26/entrez PY - 2012/1/26/pubmed PY - 2013/12/16/medline SP - e7 EP - 8 JF - Journal of glaucoma JO - J. Glaucoma VL - 22 IS - 5 N2 - 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. SN - 1536-481X UR - https://www.unboundmedicine.com/medline/citation/22274665/Klinefelter_syndrome_associated_with_goniodysgenesis_ L2 - http://Insights.ovid.com/pubmed?pmid=22274665 DB - PRIME DP - Unbound Medicine ER -