title: [Diagnosis of Spielmayer-Vogt disease. Electron microscopy of conjunctival biopsy].
abstract: The authors describe ultrastructural changes in conjunctival specimens from five patients with Spielmeyer-Vogt-Batten's disease. Four of the specimens contained lysosomal "fingerprint-bodies", regarded as a specific lesion for this disease. When the biochemical defect remains unknown, the recognition of these ultrastructural changes is a valuable diagnostic tool to supplement clinical and electrophysiological examinations.
authors.affiliation: Oyeavdelingen, Haukeland sykehus, Bergen.
authors.forename: O H
authors.initials: OH
authors.lastname: Haugen
authors.forename: J H
authors.initials: JH
authors.lastname: Seland
authors.forename: K
authors.initials: K
authors.lastname: Sommerfelt
authors.forename: P E
authors.initials: PE
authors.lastname: Waaler
mesh_terms: D001706:Biopsy; D002648:Child; D003228:Conjunctiva / Q000648:ultrastructure*; D005260:Female; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009472:Neuronal Ceroid-Lipofuscinoses / Q000473:pathology*
vernacular_title: Diagnostikk av Spielmeyer-Vogts sykdom. Elektronmikroskopi av konjunktivalbiopsi.