gms | German Medical Science

24th Annual Meeting of the German Retina Society

German Retina Society

17.06. - 18.06.2011, Aachen

Variant retinal phenotyps in murine models of neuronal ceroid lipofuszinose

Meeting Abstract

  • R. Michael Dutescu - Augenklinik der Charité, CVK, Berlin
  • I. Semkova - Augenklinik der Charité, CVK, Berlin
  • N. Kociok - Augenklinik der Charité, CVK, Berlin
  • A.M. Joussen - Augenklinik der Charité, CVK, Berlin

German Retina Society. 24th Annual Conference of the German Retina Society. Aachen, 17.-18.06.2011. Düsseldorf: German Medical Science GMS Publishing House; 2011. Doc11rg21

doi: 10.3205/11rg21, urn:nbn:de:0183-11rg219

This is the translated version of the article.
The original version can be found at:

Published: June 15, 2011

© 2011 Dutescu et al.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( You are free: to Share – to copy, distribute and transmit the work, provided the original author and source are credited.



Background: Neuronal Ceroid Lipofuscinosis (NCL) is a group of severe inherited neurodegenerative disorders. Causative mutations in nine different genes have been described (CLN1–9) while their functions so far remain unclear. Visual disturbance is typically the first clinical sign characterized by lysosomal lipofuscin-like intracellular inclusions with subsequent neurodegeneration. The aim of this study was to determine whether signs of disease are accompanied by inflammatory and retino-vascular changes in different animal models.

Methods: Mouse models harbouring mutations of the CLN1, NCL3 and NCL6-gene with background genotype mice were raised. Fluorescein-angiograms were recorded before eyes were embedded in paraffin for histology. Histopathological features were demonstrated by periodic shift staining of different immunhistochemical markers (GFAP, CD 31, Amyloid β, Isolectin IB4).

Results: In CLN1 and CLN6 mice presence of PAS positiv inclusions are shown in retinal cell layers. Retinovascular occlusions are demonstrated in flat mounted retinas of CLN6 mice stained with Isolecitin-B4. Angiography revealed mild hypofluorescent retinas of CLN 1 and CLN 3 mice while angiograms of CKN 6 mice showed a pronounced vascular hypofluorescence.

Discussion: Murine models of NCL show a variant retinal pathology with a mutation dependent vascular pathology, retinal neurodegeneration and gliosis. Futher phenotyping of these murine models could provide a better understanding of CLN-gene related retinal function and vascular structure.