Stargardt Disease (STGD)
Stargardt Disease in Labrador Retrievers, Juvenile Macular Degeneration
Stargardt disease (STGD) is a degenerative disease of the retina that affects both the rod and cone cells needed for vision in dim and bright light. Symptoms can present before 10 years of age with dilated pupils and decreased response to light. Affected dogs develop significant loss of sight in both daytime and dim light which can eventually develop into complete loss of vision.
Reading Your Results
A. (CLEAR/NORMAL):
These dogs have two copies of the normal gene and will neither develop Stargardt Disease nor pass this mutation to their offspring.
B. (CARRIER/NOT AFFECTED):
These dogs have one copy of the normal gene and one copy of the mutation associated with this disease. They will not develop Stargardt Disease but will, if bred, pass the mutation to 50% of their offspring, on average.
C. (AT RISK/AFFECTED):
These dogs have two copies of the mutation associated with this disease and are likely to develop Stargardt Disease which leads to a progressive decline in vision.
Additional Details
Inheritances
Autosomal Recessive
Affected gene
ABCA4
Chromosome
Ch. 6
Mutation
chr6:55146556-55146557: 1 bp insertion (ins C)
Publication:
Makelainen S, Godia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfstrom K, Hallbook F, Ekesten B, Andersson G, Bergstrom TF. An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease. PLoS Genet. 2019 Mar 19;15(3):e1007873 [PubMed: 30889179]