STGD - Stargardt Disease

Application:
- Identification of heterozygous carriers for breeding selection
- Differential diagnosis in case of visual impairment
The test examines whether the mutation (c.4176insC) in the ABCA4 gene that causes 'Stargardt Disease' (STGD) is present. The mode of inheritance is autosomal recessive, so that only animals in which both hereditary factors are defective develop the disease. Affected animals show a progressive degeneration of the retina, which initially causes an impairment of visual acuity in the central visual field. As the disease progresses, both day and night vision deteriorate; complete blindness has not yet been described.