OMIA:002085-9615 : Retinal atrophy, progressive, Whippet in Canis lupus familiaris (dog) |
Categories: Vision / eye phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: no
Genetic engineering:
Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: As reported by Somma et al. (2016), "The retinal dystrophy reported here in Whippet dogs has a unique phenotype of an initial lack of ERG b-wave, development of retinal bullae then a progressive generalized retinal degeneration".
Breed:
Whippet (Dog) (VBO_0201421).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002085-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
| 2021 | Genetics Committee of the American College of Veterinary Opthalmologists : |
| The Blue Book: Ocular disorders presumed to be inherited in purebred dogs. 13th Edition https://ofa.org/wp-content/uploads/2022/10/ACVO-Blue-Book-2021.pdf , 2021. | |
| 2016 | Somma, A.T., Moreno, J.C., Sato, M.T., Rodrigues, B.D., Bacellar-Galdino, M., Occelli, L.M., Petersen-Jones, S.M., Montiani-Ferreira, F. : |
| Characterization of a novel form of progressive retinal atrophy in Whippet dogs: a clinical, electroretinographic, and breeding study. Vet Ophthalmol , 2016. Pubmed reference: 27896899. DOI: 10.1111/vop.12448. |
Edit History
- Created by Frank Nicholas on 01 Dec 2016
- Changed by Imke Tammen2 on 17 Jun 2023