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Mutation: DIRAS1 gene
The retinal abnormalities are typically detected around 4 years of age
Säugetiere sind jedoch größtenteils resistent gegen MAC-Infektionen
The disease is characterized by day-blindness and absence of retinal cone function in adult dogs
Bd/Bd) oder heterozygot für zwei Allele (zum Beispiel Bc/bc
Lysosomale Speicherkrankheit (LSD) Hunde Mutation: DIRAS1 geneLysosomal storage disease (LSD) is an inherited autosomal recessive lysosomal storage disease. Defects in the cells degradation process cause various cellular materials to accumulate within the cells. This waste material affects nerve cell function, causing a progressive neurodegenerative disease. Progressive cerebellar ataxia is the main symptom in affected dogs, but episodic nystagmus (involuntary eye movement) can also manifest. Behavioral changes
