Presumed uremic optic neuropathy in a patient with Senior–Loken syndrome

Abstract

Abstract A patient who had been diagnosed with infantile retinal dystrophy developed renal failure in his twenties, at which time the diagnosis was revised to Senior–Loken syndrome. He was poorly compliant. At 36 years old, he experienced a sudden drop in visual acuity in the setting of cramping and fatigue and was found to be in uremic crisis. Six months after the event and its treatment, his vision failed to improved. Optic nerve pallor was out of proportion to the retinal dystrophy, and the presumed reason for his new visual loss was uremic optic neuropathy. The patient’s younger sister also had been diagnosed with infantile retinal dystrophy, and metabolic screening confirmed subclinical renal dysfunction that was to be carefully followed going forward. Infantile retinal dystrophy can be associated with later systemic disease. Early detection of such disease can potentially decrease morbidity. Patients with retinal dystrophy can develop new visual loss from causes other than the retinopathy itself.