Visual loss associated with pseudoxanthoma elasticum

An 18-year-old woman with pseudoxanthoma elasticum had sudden profound bilateral visual loss, presumably as a result of optic nerve infarction caused by anemia and hypotension from massive gastrointestinal bleeding. Her central visual acuity largely recovered in her right eye, but her left eye had only hand motions acuity. During the subsequent 24 years, she underwent three separate surgical procedures for gastrointestinal bleeding. Abdominal arterial angiography showed numerous aneurysms of the gastric arteries. A subtotal gastrectomy was done, and histopathologic examination found advanced degenerative changes of the elastic lamina of the gastric arteries. At age 42 years, the patient lost residual vision in her right eye. This was caused by an extrafoveal subretinal choroidal neovascular membrane, which was obliterated with laser photocoagulation. Degeneration of elastic tissue, the primary defect in this syndrome, may cause cardiovascular complications and formation of breaks in the Bruch membrane, which are visible as angioid streaks. Ingrowth of fibrovascular tissue through angioid streaks may cause disturbances of macular function. The optic nerve ischemia and infarction associated with the profound visual loss in this patient reminds the ophthalmologist of the systemic nature of this disorder and the possibility that systemic vascular complications with massive blood loss may occur.