[Juvenile glaucoma and optic disc pit with macular detachment in Klinefelter's syndrome].
METHODS
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.


CONCLUSIONS
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.
Servicio de Oftalmología, Institut de Recerca Biomèdica de Lleida (IRB Lleida), Hospital Universitari Arnau de Vilanova de Lleida, Lérida, España.
M J
MJ
Muniesa Royo
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C
Sánchez Pérez
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C
Jurjo Campo
D005124:Eye Abnormalities; D005901:Glaucoma; D006801:Humans; D007713:Klinefelter Syndrome; D009898:Optic Disk / Q000002:abnormalities; D012163:Retinal Detachment; D041623:Tomography, Optical Coherence