In other species: snow leopard

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 604229 (trait)

Single-gene trait/disorder: unknown

Disease-related: yes

Cross-species summary: Peters anomaly is a type of anterior segment dysgenesis.

Species summary:  [IT thanks Emma Faull for contributions to this entry in September 2025] 

Molecular basis: Suedmeyer et al. (2014) conducted a karyotype analyses of the affected animal and noted a chromosomal abnormalty that may have contributed to this phenotyp: "the second largest chromosome pair was polymorphic in all cells analyzed, and G-banding demonstrated a pericentric inversion" (see OMIA:003001-9321 for details). Additional variation at the terminal ends of the long arms of the animals X chromosomes were noted, but considered less likely to be associated witht the condition as variability in X chromosomes is not uncommon in macropods.  

Clinical features: Suedmeyer et al. (2014): "A 10-mo-old female red kangaroo (Macropus rufus) presented with a unilateral congenital corneal opacity [of the right eye]. Complete ophthalmic examination revealed a shallow anterior chamber and a focal area of corneal edema with multiple persistent pupillary membranes extending from the iris colarette to the corneal endothelium adjacent to the edematous area of cornea. High-resolution B-scan ultrasound of the anterior segment showed an area consistent with thinning of Descemet's membrane in the area of corneal edema. Ophthalmic examination and ultrasound findings are consistent with a diagnosis of Peters anomaly, a form of anterior segment dysgenesis."