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Neuronal ceroid lipofuscinosis in Polish Owczarek Nizinny (PON) dogs
PON have become a popular breed over the last years. So it is important to know that they can have degenerative eye disease similar to them described for Miniature Scnauzers...

The aim of this study was to characterize the clinical and morphologic features of neuronal ceroid lipofuscinosis (NCL) in the Polish Owczarek Nizinny (PON) breed of dog.

Nine Swedish PON dogs of both sexes were included in the study.

All dogs underwent a detailed clinical evaluation, with emphasis on ophthalmic exams.

Histopathology and electron microscopy were performed on the eyes, brain and various internal organs.

Immunohistochemical staining for detection of sphingolipid activator proteins (SAPs) and mitochondrial ATP synthase (SCMAS) was performed on the eyes and brain.

Results: The dogs showed behavioral abnormalities, motor disturbances and visual impairment or blindness.

Pupillary responses were abnormal while fundus changes varied from normal to severe retinal atrophy.

Electroretinography (ERG) showed variable changes, from slight alterations in the process of dark adaptation to severely reduced or nonrecordable ERG a- and b-wave amplitudes. Histopathology revealed intracytoplasmic storage bodies within neurons of the brain and in retinal cells, especially the retinal pigment epithelium (RPE).

Round to oval granular type of inclusion bodies, known as granular osmiophilic dense deposits (GRODS), were found in neuronal cells in the brain and in the retina. Immunohistochemistry identified the storage material in the brain and retina as consisting of SAPs.

Conclusion: The presently described NCL disease in PON dogs shows similarities to previously recorded cases in the Miniature Schnauzer.

The closest human equivalent to this disease is infantile NCL (CLN1), in which the major stored proteins are SAPs and the ultrastructure of the inclusion bodies of neuronal cells is granular.



Source: K. Narfström, A. Wrigstad, B. Ekesten, A.-L. Berg (2007): Neuronal ceroid lipofuscinosis: clinical and morphologic findings in nine affected Polish Owczarek Nizinny (PON) dogs. In: Veterinary Ophthalmology 10 (2), 111–120.



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