title: Macular halos associated with Niemann-Pick type B disease.
abstract: Macular halos describe a striking clinical finding of bilaterally elevated, doughnut-shaped, white rings around th fovea. This paper presents the third well-documented report of the association of macular halos with Niemann-Pick type B disease, demonstrated by color photographs and subtle fluorescein angiographic findings. The systemic association with Niemann-Pick type B disease was confirmed by bone marrow biopsy and enzyme assay. Of 13 family members examined, only the proposita had macular halos; 10 were found to be carriers by sphingomyelinase assay. Recognition of this pathognomonic eye finding warrants more widespread awareness as a presenting sign of Niemann-Pick type B disease.
mesh_terms: D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D006579:Heterozygote; D006801:Humans; D008266:Macula Lutea; D009542:Niemann-Pick Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012164:Retinal Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology