Gaucher disease--Norrbottnian type. Ocular abnormalities.
Ocular abnormalities in 22 patients with the Norrbottnian type of Gaucher disease are reported. During their first 10 years 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; 8/21 examined patients exhibited white retinal infiltrates, which mostly appeared after splenectomy; 8/19 examined patients had myopia. Except for the retinal changes, no connection was found between the abnormalities and the severity of the disease.
D000293:Adolescent; D000328:Adult; D002648:Child; D005128:Eye Diseases / Q000209:etiology*; D005260:Female; D005451:Fluorescein Angiography; D005776:Gaucher Disease / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D008297:Male; D013285:Strabismus / Q000209:etiology; D013548:Sweden; D014786:Vision Disorders / Q000209:etiology*; D014792:Visual Acuity; D014794:Visual Fields