A 34-year-old male, diagnosed with Klinefelter's syndrome, came to the emergency department for loss of visual acuity in the left eye (LO) of 2 days' evolution. Visual acuity in the right eye (OD) was 1 and in the OI 0.2. The anterior pole was unchanged and the angle was open grade IV 360o with little pigmentation. The intraocular pressure (IOP) in the OD was 34mmHg and in the OI 30mmHg. The central corneal thickness in OD was 516 microns and in OI 520 microns. Funduscopic examination showed a marked increase in papillary excavation in both eyes with an excavation/vertical disc ratio of 0.8. In the OI there was an oval depression corresponding to a congenital optic nerve pit in the temporal sector with an area of peripapillary atrophy associated with a serous macular detachment. Study of the retinal nerve fibre layer by optical coherence tomography (OCT) (Stratus OCT Carl Zeiss Ophthalmic Systems, Inc) showed significant thinning in both eyes, more marked in the OD, although it should be noted that the actual thickness of the left optic nerve fibre layer may be increased by the serous macular detachment. Computerised campimetry (Humphrey 24-2) showed a superior arcuate defect in the OD and a central defect in the OI due to maculopathy. Characteristically, fluorescein angiography showed an initial hypofluorescence of the fovea. OCT over the macula revealed separation of the inner retinal layers in communication with the fovea and a macular neurosensory detachment with no connection to the fovea. We also see a macular lamellar hole in the outer retinal layers.

