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Early Retinal Degeneration (ERD)
Breeds
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
GTPs
General
Disease Name
Early Retinal Degeneration (ERD)
OMIA
1297
Gene Name
STK38L
Mutation
c.186ins229bp,15bp dup
Test Type
Genetic Disease/Disorder
Details
ERD is an early onset hereditary retinal degeneration characterized by retina cells being lost, leading first to problems seeing in dim light. Affected dogs are initially nightblind, but may become totally blind between 12- and 18 months of age.
Details 2
Affected dogs are initially nightblind, and become totally blind between 12- and 18 months of age. The postnatal development of their rod and cone photoreceptors is abnormal both structurally and functionally. Morphologically, rod and cone inner- and outer-segment growth occurs but appears uncoordinated. Adjacent rods become very disparate in the size and proportions of their inner- and outer segments. Subsequent to these abnormalities of development, the rods and cones degenerate, rapidly at first and later more gradually. (from Ackland 1987)
Published
Goldstein, O., Kukekova, AV., Aguirre, GD., Acland, GM. : Exonic SINE insertion in STK38L causes canine early retinal degeneration (erd). Genomics :, 2010. Pubmed reference: 20887780. DOI: 10.1016/j.ygeno.2010.09.003.
Published 2
Acland, G.M., Aguirre, G. : Retinal degenerations in the dog. IV Early retinal degeneration (erd) in Norwegian elkhounds Experimental Eye Research 44:491-521, 1987. Pubmed reference: 3496233.
Body/System/Process
Eye
OMIA Url
Inheritance
AR
Breed Specific Info
Researched Breeds
Norwegian Elkhounds
