Gaucher disease — Norrbottnian type Ocular abnormalities

Abstract

Ocular abnormalities in 22 patients with the Norrbottnian type of Gaucher disease are reported. During their first 10 yr of life 10 patients had a horizontal gaze abnormality simulating congenital ocular motor apraxia. Examination showed signs of supranuclear oculomotor disturbances in several of them. Thirteen patients had squint secondary to weakness of the abductor muscles; 8 of 21 examined patients exhibited white retinal infiltrates, which mostly appeared after splenectomy; 8 of 19 examined patients had myopia. Except for the retinal changes, no connection was found between the abnormalities and the severity of the disease.