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  • Title: [Juvenile glaucoma and optic disc pit with macular detachment in Klinefelter's syndrome].
    Author: Muniesa Royo MJ, Sánchez Pérez C, Jurjo Campo C.
    Journal: Arch Soc Esp Oftalmol; 2012 Aug; 87(8):256-9. PubMed ID: 22794173.
    Abstract:
    CASE REPORT: A 34- year- old man affected by Klinefelter syndrome, with loss of vision in his left eye, ocular hypertension with increased cupping in both eyes, and optic disc pit with serous macular detachment in the left eye. Optical coherence tomography showed a macular detachment with a double-layer detachment, consisting of both an inner layer separation and an outer layer detachment. The outer layer detachment did not seem to communicate with the optic disc. DISCUSSION: Klinefelter syndrome has been associated with diffuse choroidal atrophy and colobomas of the iris and choroid. Our patient showed bilateral juvenile glaucoma and unilateral congenital optic disc pit. This association has not been previously reported in the bibliography.
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