NCL Description for Japanese Retrievers

Age of on-set of clinical signs: 3 years

Age of euthanasia: 3 years

Abnormalities often observed by the owner:
Mental changes: unknown
Changes in gait and posture: unknown
Visual abnormalities: unknown
Seizures/convulsions: present
Other changes: polydypsia (excessive thirst)

Abnormalities observed upon clinical examinations:
Clinical neurologic changes: unknown
Clinical ophthalmic changes: unknown
Visual abnormalities: unknown
Retinal changes: unknown
Electroretinography (ERG): not assessed
Other clinical findings: unknown


Histopathology
Brain: Gross examination - unknown. Light microscopy conglomerates of granules of similar tinctorial reactions in hillock of neurons of neuraxis, deposition prominent in cerebral cortex. Electron microscopy variable numbers of small to large, membrane-bounded granules in cytoplasm of smooth muscle, nerve, astroglia and macrophages. Pigment autofluoresced under UV.
Eyes: Retinal pigment epithelial cells on nontapetal region of central retina were swollen and contained large amounts of basophilic, weakly PAS positive, and acid-fast granules.
Other organs and structures: lung, kidney, adrenal gland, liver, spleen, lymph nodes, bone marrow

Mode of inheritance: unknown

Gene containing mutation: Unknown

References:

Umemura T, Sato H, Goryo M, Itakura C. Generalized lipofuscinosis in a dog. Jpn J Vet Sci 1985; 47:673-677.