In other species: domestic cat

Categories: Vision / eye phene

Single-gene trait/disorder: no

Disease-related: yes

Key variant known: no

Cross-species summary: Also known as Prolapsed nictitating membrane gland (PNMG) or cherry eye

Species-specific name: Cherry eye

Mapping: Freyer et al. (2024) "several thousand cases and controls for cherry eye in both purebred dogs and mixed breeds [were] used for a large-scale GWAS, revealing a single peak of genome-wide significance on canine chromosome 18, directly at the location of the previously identified FGF4 insertion [FGF4L1] known to cause chondrodysplasia in several breeds."
Zeng et al. (2024) conducted GWAS analysis of 170K SNP microarray data from 653 brachycephalic dogs and 788 brachycephalic and mesocephalic dogs and identified two regions with SNPS excceeding genome-level significance threshold:  CFA3:15627075-15983629 bp and CFA22:15627075-15983629 bp.

Breeds: American Cocker Spaniel (Dog) (VBO_0200038), Boston Terrier (Dog) (VBO_0200204), English Bulldog (Dog) (VBO_0200485), French Bulldog (Dog) (VBO_0201455), Great Dane (Dog) (VBO_0200623), Italian Cane Corso (Dog) (VBO_0200712), Lhasa Apso (Dog) (VBO_0200824), Neapolitan Mastiff (Dog) (VBO_0200930).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).