Glaucoma juvenil y foseta papilar con desprendimiento macular asociado a síndrome de Klinefelter / Juvenile glaucoma and optic disc pit with macular detachment in klinefelter’s syndrome

Caso clínico: Varón de 34 años con síndrome de Klinefelter que presentaba pérdida de agudeza visual en ojo izquierdo (OI), hipertensión ocular bilateral con aumento de excavación papilar, y foseta papilar con desprendimiento seroso macular en OI. La tomografía de coherencia óptica mostraba separación de las capas internas de la retina en comunicación con la papila y desprendimiento neurosensorial macular sin conexión con la foseta. Discusión: El síndrome de Klinefelter se ha asociado a atrofia coroidea y colobomas iridianos y coroideos. Nuestro paciente presentaba glaucoma juvenil bilateral y foseta papilar congénita unilateral. En la bibliografía no hemos encontrado dicha asociación(AU)

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(AU)

[Juvenile glaucoma and optic disc pit with macular detachment in Klinefelter's syndrome]. / Glaucoma juvenil y foseta papilar con desprendimiento macular asociado a síndrome de Klinefelter.

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.