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Stargardt Disease (Retinal Degeneration) - SINGLE ASSAY TEST Overview

Stargardt Disease (Retinal Degeneration) - SINGLE ASSAY TEST
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Category: Ophthalmologic - Associated with the eyes and associated structures

Gene: ABCA4

Variant Detected: c.4176insC

Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.

Mode of Inheritance: Autosomal Recessive

Test Overview: Also referred to as Juvenile Macular Degeneration. It is a progressive disease and symptoms include blurred vision and a difficulty trying to adapt from bright light to dark (dim) light.

Research Citation(s): An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease Suvi Mäkeläinen, Marta Gòdia, Minas Hellsand, Agnese Viluma, Daniela Hahn, Karim Makdoumi, Caroline J. Zeiss, Cathryn Mellersh, Sally L. Ricketts, Kristina Narfström, Finn Hallböök, Björn Ekesten, Göran Andersson, Tomas F. Bergström https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1007873
2010 Zangerl, B., Lindauer, S.J., Acland, G.M., Aguirre, G.D. : Identification of genetic variation and haplotype structure of the canine ABCA4 gene for retinal disease association studies. Mol Genet Genomics 284:243-50, 2010. Pubmed reference: 20661590.


Associated Breed(s): Australian Cobberdog,  Australian Labradoodle ,  Double Doodle,  Labradoodle ,  Labradoodle Retrodoodle ,  Labrador Retriever,  Cavador,