title: Macula halo syndrome and non-pitting lid oedema in an Italian family.
abstract: We report an undocumented association of macula halo syndrome and mechanical ptosis secondary to nonpitting oedema in two members of an Italian family. Macula halo syndrome is universally recognised to be variant of Niemann-Pick disease type B, a lipid storage disorder which is ultimately diagnosed by measuring sphingomyelinase activity levels. Although the diagnosis could not be confirmed because of our patients' refusal to undergo enzymatic investigation, the clinical picture proved to be highly compatible with the suggested diagnosis. We discuss the possible clinical differential diagnosis of lipid storage diseases involving the retina.
authors.affiliation: Institute of Ophthalmology, University La Sapienza, Rome, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Pagliarini
authors.forename: S
authors.initials: S
authors.lastname: Pupparo
authors.forename: M
authors.initials: M
authors.lastname: Gharbiya
authors.forename: F
authors.initials: F
authors.lastname: Regine
authors.forename: C
authors.initials: C
authors.lastname: Babacco Gabrieli
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000175:diagnosis* / Q000235:genetics; D004487:Edema / Q000175:diagnosis* / Q000235:genetics; D005141:Eyelid Diseases / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008266:Macula Lutea; D009542:Niemann-Pick Diseases / Q000175:diagnosis* / Q000235:genetics; D010375:Pedigree; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics; D013577:Syndrome