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

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 120200 (trait) , 120300 (trait) , 120330 (trait) , 120400 (trait) , 120430 (trait) , 120433 (trait) , 216800 (trait) , 216820 (trait) , 243910 (trait)

Mendelian trait/disorder: unknown

Disease-related: 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)