A 73-YEAR-OLD white woman was seen in 1987 with a decrease in visual acuity to 20/25 OD and to 20/40 OS owing to bilateral cataracts and an epiretinal membrane in the left eye. Her refractive error was +0.50+4.00 × 5 OD and −0.25+4.00 × 180 OS. Darkly pigmented, slightly elevated plaquelike lesions of the sclera with dark brown pigmentation of the overlying conjunctiva (Figure 1) were noted in a perilimbal location nasally and temporally in each eye. Her ear cartilage was pigmented (Figure 2), and radiographic studies of her lower spine and pelvis showed waferlike calcifications of the intervertebral disks, ankylosing of the spine and sacroiliac joints, and advanced degenerative arthritis of the hips (Figure 3). She suffered from alkaptonuric ochronosis, as did a brother. Her parents were consanguineous relatives from Europe.
Cheskes J, Buettner H. Ocular Manifestations of Alkaptonuric Ochronosis. Arch Ophthalmol. 2000;118(5):724-725. doi:10.1001/archopht.118.5.724