Macula halo syndrome. Variant of Niemann-Pick disease.
The macula halo syndrome is the name proposed to describe patients with a unique ring-form opacity about the foveolas and a histiocytic storage disease. Since sphingomyelinase deficiency has now been found in the three patients in whom it was sought (including two in the present report), the entity may be classified as a variant of Niemann-Pick disease. A secondary hyperlipidemia may also be present. The macula halos consisting of symmetric crystalloid opacities with little or no visual impairment are pathognomonic of the entity.
D000328:Adult; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008266:Macula Lutea; D008297:Male; D009542:Niemann-Pick Diseases / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis; D013577:Syndrome