To the Editor.
—Gaucher disease, an unusual inherited metabolic disorder, is characterized by excess storage of glucocerebrosides. Patients with type I disease are free of neurologic involvement. Fundus abnormalities in Gaucher disease include reported retinal hemorrhages and edema, as well as a solitary posterior pole lesion with a pigmented temporal margin. Macular cherry-red spots have been described, but the validity of these observations has recently been challenged.1 Granular opacities in a ring-shaped distribution around the fovea of one patient have also been noted. Scattered whitish spots in superficial retinal layers have been reported, most often in patients with neurologic involvement.1Patients with factor XI deficiency often show posttraumatic and perioperative bleeding, but spontaneous hemorrhage is not common. We are unaware of any fundus abnormalities reported in association with this inherited coagulation disorder.We report three discrete vascular lesions in the peripheral fundus of a patient with type I
Freedman S, Puliafito CA. Peripheral Retinal Vascular Lesions in a Patient With Gaucher Disease and Factor XI Deficiency. Arch Ophthalmol. 1988;106(10):1351–1352. doi:10.1001/archopht.1988.01060140515012