English Setter

PRA-rcd4 - Progressive Retinal Atrophy

Progressive loss of vision

Description: Rod and cone dysplasia type 4

Symptoms : Progressive loss of vision (at night and then in daylight) culminating in blindness

Age of onset : Average age of 10 years, cases observed from 5 to 12 years old

Frequency : 7% carriers in French population

Gene involved : C2orf71

Tested mutation : c.3149_3150insC

Transmission : Autosomal Recessive

Patent :

Notes : This variant does not account for all cases in the English Setter breed, indicating the presence of at least one additional mutation for PRA in this breed that remains to be identified.

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English Setter

NCL-D - Neuronal Ceroid Lipofuscinosis

Nervous system degeneration

Description: Neurodegenerative disease leading to loss of motor function and vision and to behavioural disorder

Symptoms : Progressive loss of motor function and coordination, behavioural disorder, blanks, progressive loss of vision

Age of onset : Between 12 and 18 months old

Frequency : _

Gene involved : CLN8

Tested mutation : c.491T>C

Transmission : Autosomal Recessive

Patent : _

Notes : _

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