home

Order Tests for Dogs

DNA Tests

Progressive Retinal Atrophy (BBS2)

Description

Retinal degeneration affects dogs and is an inherited eye disease. Retinal Degeneration usually presents with poor vision and night blindness. Affected dogs may appear to move more cautiously than their littermates and have a tendency to bump into objects. This disease occurs as a result of abnormal development and degeneration of Photoreceptor Cells (Rod and Cone Cells) of the Retina, which are responsible for sensing light and transmitting signals to the brain, resulting in vision. Additional testing such as electroretinography (ERG) to confrim diagnosis.

Recommended Breeding

Diseases

Progressive Retinal Atrophy (BBS2)

$60.00

Associated Breed(s):

Click here to view Associated Breeds

Labels:

Pathogenic (P)

A healthcare provider can use molecular testing information in clinical decision‑making for breeding programs and/or screening.

Category:

Ophthalmologic - Associated with the eyes and associated structures

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Gene:

BBS2

Variant Detected:

chr27:20447905-20447906: 229 bp insertion; chr27:20447906-20447920: 15 bp duplication (dup GGAAACAGAGTTCTT)

Mode of Inheritance:

Autosomal Recessive

OMIA Reference:

Click to View Full OMIA Reference