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Abstract #50970 Published in IGR 14-3
Juvenile glaucoma and optic disc pit with macular detachment in Klinefelter's syndrome
Muniesa Royo MJ; Sánchez Pérez C; Jurjo Campo CArchivos de la Sociedad Espaņola de Oftalmologia 2012; 87: 256-259
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.
Servicio de Oftalmología, Institut de Recerca Biomèdica de Lleida (IRB Lleida), Hospital Universitari Arnau de Vilanova de Lleida, Lérida, España.
Full articleClassification:
9.1.2 Juvenile glaucoma (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
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)
2.14 Optic disc (Part of: 2 Anatomical structures in glaucoma)