OMIA 000219-29064 : Coloboma in Uncia uncia

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

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)

Mendelian trait/disorder: unknown

Considered a defect: yes

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

Species-specific description: Womble et al. (2021): “Multiple ocular coloboma (MOC), congenital defects in one or more of the structures of the eyes, was the most common congenital disease in this [mortality review] study and is a well-documented condition in snow leopards in zoos."

History: Womble et al. (2021): "The condition was first recognized in the late 1960s and first reported in 1978 [Wahlberg, 1978]. Since then, MOC has been identified in zoos in NA, Europe, Australia, and Asia. [Wahlberg and Ahti, 1980; Phillips et al., 1981; Wahlberg et al., 1982; Gripenberg et al., 1985; Schäffer et al., 1988; Barnett and Lewis, 2002; Hamoudi et al., 2013; Lengger et al., 2013; Lengger et al., 2016]."

Clinical features: Womble et al. (2021): "Manifestations [of multiple ocular coloboma] include eyelid agenesis (to date, only the upper lids), persistent pupillary membranes, iris coloboma(s), and less commonly, posterior ocular dysplasia and microphthalmia [Lengger et al. 2013]."

(Edited by Natalia Denisse Ramos Reyes 7/11/2022)

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 Womble, M., Georoff, T.A., Helmick, K., Carpenter, N.A., Joslin, J., Tupa, L., Tetzloff, J., McAloose, D. :
Mortality review for the North American snow leopard (Panthera uncia) zoo population from January 1999 to December 2019. J Zoo Wildl Med 52:145-156, 2021. Pubmed reference: 33827171. DOI: 10.1638/2020-0132.
2019 Kilburn, J.J., Backues, K.A., Kain, S., Pucket, J. :
Lip-to-lid transposition and husbandry management for severe bilateral eyelid coloboma in three snow leopards (Panthera uncia). J Zoo Wildl Med 50:688-695, 2019. Pubmed reference: 33517640. DOI: 10.1638/2018-0122.
2016 Lengger, J., Meissel, H., Blomqvist, L., Nell, B. :
Surgical approach to partial eyelid agenesis in snow leopards (Uncia uncia). Proc Am Assoc Zoo Vet :216, 2016.
2013 Lengger, J., Walzer, C., Blomqvist, L. :
An update on ocular coloboma in snow leopards (Uncia uncia). In: Blomqvist L (ed.) International pedigree book for snow leopards, Uncia uncia, Volume 10. Hunnebrostrand (Sweden): Nordens Ark Foundation :35-37, 2013.
2002 Barnett, K.C., Lewis, J.C. :
Multiple ocular colobomas in the snow leopard (Uncia uncia). Vet Ophthalmol 5:197-9, 2002. Pubmed reference: 12236871. DOI: 10.1046/j.1463-5224.2002.00219.x.
1988 Schäffer, E., Wiesner, H., von Hegel, G. :
[Multiple ocular coloboma (MOC) with persistent pupillary membrane in the snow leopard (Panthera uncia)]. Tierarztl Prax 16:87-91, 1988. Pubmed reference: 3368914.
1985 Gripenberg, U., Blomqvist, L., Pamilo, P., Söderlund, V., Tarkkanen, A., Wahlberg, C., Varvio-Aho, S.L., Virtaranta-Knowles, K. :
Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies. Hereditas 103:221-9, 1985. Pubmed reference: 4086323. DOI: 10.1111/j.1601-5223.1985.tb00505.x.
1982 Wahlberg, C., Ahti, T., Blomqvist, L. :
Further observation on the multiple ocular colobma (MOC) in the snow leopard, Panthera uncia. Blomqvist L (ed.). International pedigree book for snow leopards, Volume 3. :139-144, 1982.
1981 Phillips, L.G. :
Palpebral coloboma in three snow leopards. Proc Am Assoc Zoo Vet :67-70, 1981.
1980 Wahlberg, C., Ahti, T. :
On the multiple ocular coloboma with retinal dysplasia (MOC) in snow leopards, Panthera uncia. In: Blomqvist L (Eds.). International pedigree book for snow leopards, Volume 2. :183-194, 1980.
1978 Wahlberg, C. :
A case of multiple ocular coloboma in a snow leopard. In: Blomqvist L (ed.). International pedigree book of snow leopards. Helsinki (Finland): Helsinki Zoo :108-112, 1978.

Edit History


  • Created by Imke Tammen2 on 07 Nov 2022
  • Changed by Imke Tammen2 on 07 Nov 2022