Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Bardet-Biedl Syndrome 4

Breeds

Relevance Rating: Some evidence for test being meaningful in this breed

General

Disease Name
Bardet-Biedl Syndrome 4
Mutation
c.58A>T
Test Type
Genetic Disease/Disorder
Details
This disorder is a form of progressive retinal atrophy (PRA). Retina cells are lost slowly, with intial signs of problems seeing in dim light. May progress slowly to complete blindness. Reported age of diagnosis was 2 years.
Details 2
This disorder is a form of progressive retinal atrophy (PRA). Retina cells are lost slowly, with intial signs of problems seeing in dim light. May progress slowly to complete blindness. Reported age of diagnosis was 2 years.
Published
Chew, T., Haase, B., Bathgate, R., Willet, C.E., Kaukonen, M.K., Mascord, L.J., Lohi, H.T., Wade, C.M. : A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. G3 (Bethesda) 7:2327-2335, 2017. Pubmed reference: 28533336. DOI: 10.1534/g3.117.043109
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.