MACULA-HALO-SYNDROME AND NON-PITTING LID EDEMA IN AN ITALIAN FAMILY

We report an undocumented association of macula halo syndrome and mech anical ptosis secondary to nonpitting oedema in two members of an Ital ian family. Macula halo syndrome is universally recognised to be varia nt of Niemann-Pick disease type B, a lipid storage disorder which is u ltimately diagnosed by measuring sphingomyelinase activity levels. Alt hough the diagnosis could not be confirmed because of our patients' re fusal to undergo enzymatic investigation, the clinical picture proved to be highly compatible with the suggested diagnosis. We discuss the p ossible clinical differential diagnosis of lipid storage diseases invo lving the retina.