OMIA:000743-9615 : Optic nerve hypoplasia, bilateral in Canis lupus familiaris (dog)

Categories: Vision / eye phene

Possibly relevant human trait(s) and/or gene(s) (MIM number): 165550 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific description: Genetics Committee of the American College of Veterinary Opthalmologists (2021): "a congenital anomaly, which results in a small optic disk diameter and vision loss.Contrast with micropapilla, which may have a similar ophthalmoscopic appearance but without loss of vision."

Genetic engineering: Unknown
Have human generated variants been created, e.g. through genetic engineering and gene editing

Breeds: Collie (Dog) (VBO_0200375), Poodle, Miniature (Dog) (VBO_0201051).
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:000743-9615: Online Mendelian Inheritance in Animals (OMIA) [dataset].


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 , 2021.
2020 Becker, D., Niggel, J.K., Pearce-Kelling, S., Riis, R.C., Aguirre, G.D. :
Optic nerve hypoplasia in miniature poodle dogs: A preliminary genetic and candidate gene association study. Vet Ophthalmol 23:67-76, 2020. Pubmed reference: 31342635. DOI: 10.1111/vop.12691.
2008 da Silva, E.G., Dubielzig, R., Zarfoss, M.K., Anibal, A. :
Distinctive histopathologic features of canine optic nerve hypoplasia and aplasia: a retrospective review of 13 cases. Vet Ophthalmol 11:23-9, 2008. Pubmed reference: 18190348. DOI: 10.1111/j.1463-5224.2007.00596.x.
1998 Termote, S. :
What is your diagnosis? Congenital optic nerve hypoplasia in a dog. J Small Anim Pract 39:1, 39, 1998. Pubmed reference: 9494926.
1981 Kern, T.J., Riis, R.C. :
Optic nerve hypoplasia in three Miniature Poodles. J Am Vet Med Assoc 178:49-54, 1981. Pubmed reference: 7204223.
1976 Ernest, J.T. :
Bilateral optic nerve hypoplasia in a pup. J Am Vet Med Assoc 168:125-8, 1976. Pubmed reference: 1245453.
1971 Gelatt, K.N., Leipold, H.W. :
Case report. Bilateral optic nerve hypoplasia in two dogs. Can Vet J 12:91-6, 1971. Pubmed reference: 5104935.
1952 Saunders, L.Z. :
Congenital optic nerve hypoplasia in Collie dogs Cornell Veterinarian 42:67-80, 1952. Pubmed reference: 14905886.

Edit History

  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 26 Oct 2011
  • Changed by Imke Tammen2 on 26 Aug 2021
  • Changed by Imke Tammen2 on 20 Oct 2022
  • Changed by Imke Tammen2 on 17 Jun 2023