Diagnosis of Spielmayer-Vogt disease. Electron microscopy of conjunctival biopsy
Haugen, O.H.; Seland, J.H.; Sommerfelt, K.; Waaler, P.E.
Tidsskrift for den Norske Laegeforening Tidsskrift for Praktisk Medicin Ny Raekke 111(18): 2265-2266
1991
ISSN/ISBN: 0029-2001 PMID: 1896981 Document Number: 380609
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.