OMIA 000219-9615 : Coloboma in Canis lupus familiaris

In other species: cattle , chicken , llama , horse , domestic cat , Mexican tetra , snow leopard

Category: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 120200 (trait) , 120300 (trait) , 120330 (trait) , 120400 (trait) , 120430 (trait) , 120433 (trait) , 216800 (trait) , 216820 (trait) , 243910 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal recessive

Considered a defect: yes

Key variant known: no

Cross-species summary: Colobomas are congenital eye abnormalities where normal tissue in or around the eye are missing.

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 Dufour, V.L., Cohen, J.A., Holle, D.M., Aguirre, G.D. :
Optic nerve colobomas associated with unilateral focal serous retinal detachment in a dog - In-vivo imaging and outcome following laser retinopexy. Vet Ophthalmol :, 2021. Pubmed reference: 34709702. DOI: 10.1111/vop.12948.
1981 Gelatt, K.N., Powell, G., Huston, K. :
Inheritance of microphthalmia with coloboma in the Australian shepherd dog. American Journal of Veterinary Research 42:1686-1690, 1981. Pubmed reference: 7325429.
1973 Gelatt, K.N., McGill, L.D. :
Clinical characteristics of microphthalmia with colobomas of the Australian Shepherd dog Journal of the American Veterinary Medical Association 162:393-396, 1973. Pubmed reference: 4691375.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 27 Nov 2011