Bardet-Biedl syndrome 4(BBS4)
Also known as: Bardet-Biedl Syndrome Type 4 · Bardet-Biedl-Syndrom Typ 4 · BBS4-related Progressive Retinal Atrophy · Ciliopathy BBS4
Overview
What it is
Bardet-Biedl syndrome type 4 is an inherited systemic disorder caused by a genetic defect in the cell's microscopic, hair-like structures called cilia. Because these structures are essential for normal cell communication, their dysfunction leads to widespread issues across multiple organ systems, particularly the eyes and kidneys. This type of disease is known as a ciliopathy, which simply means a disorder affecting these cellular appendages.
How it presents
Owners typically first notice signs of vision loss, such as night blindness or bumping into obstacles, starting at a young age. Over time, this progresses to complete blindness, and some dogs may also develop unexplained obesity or symptoms of kidney disease.
Treatment
There is no cure for this condition, so treatment focuses on managing vision loss and monitoring internal organ function. This supportive, lifelong care is estimated to cost between 1,000 and 3,500 EUR.
How it's tested
BBS4 DNA-Test(BBS4)
Primary testDNA testEin Gentest, der die spezifische Mutation im BBS4-Gen nachweist, um betroffene Hunde und Anlageträger frühzeitig zu identifizieren.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Bardet-Biedl syndrome 4?
Bardet-Biedl syndrome type 4 is an inherited systemic disorder caused by a genetic defect in the cell's microscopic, hair-like structures called cilia. Because these structures are essential for normal cell communication, their dysfunction leads to widespread issues across multiple organ systems, particularly the eyes and kidneys. This type of disease is known as a ciliopathy, which simply means a disorder affecting these cellular appendages.
How is Bardet-Biedl syndrome 4 tested?
Tests currently in our database: BBS4 DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.