Clinical findings Mental deterioration, progressive loss of motor function, ataxia, retinal pigment degeneration
DiffDx FPs are also seen in peripheral lymphocytes or skin fibroblasts in Kufs’ disease—amaurotic familial idiocy—fucosidosis, Hermansky-Pudlak disease, Jansky-Bielschowsky syndrome
Prognosis Death by early adulthood
Treatment None. See Curvilinear profiles
Ophthalmology Map-dot-fingerprint pattern A pattern seen in corneal dystrophy, consisting of horizontally-oriented, whorled and filagreed layers of amorphous intraepithelial material, accompanied by apposition and separation of linear densities of vacuolated ground substance; the pleomorphic gray opacities are slightly basophilic, located under the corneal basement membrane, composed of a protein-polysaccharide matrix, and seen in microcystic or map-dot dystrophy
Renal pathology A descriptor for the layered epithelial crescents, thrombi, and haematoxylin material, accompanied by granular deposition of IgG, C3, and fibrin in diffuse glomerulonephritis
Electron microscopy Reticular aggregates in capillary endothelium which, in systemic lupus erythematosus, may represent a reaction of the endoplasmic reticulum to injury
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.