In other species: dog , taurine cattle

Categories: Vision / eye phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 126300 (trait)

Mendelian trait/disorder: unknown

Disease-related: yes

Cross-species summary: Two rows of eyelashes

Molecular basis: Hisey et al. (2020) conducted a genome wide association study, mapped distichiasis to ECA13 and "identified a 16 kb deletion on ECA13 in an intergenic region that was associated with distichiasis in Friesian horses. .... The identified 16 kb deletion (ECA13:g.178714_195130del) was also not perfectly concordant with disease but was the most concordant with disease phenotype. ... Eighteen out of 19 cases were homozygous for the 16 kb deletion; however, seven out of 75 controls were also homozygous for the deletion. ... A single horse with distichia was not homozygous for the ROH identified as a part of the GWAS analysis and was heterozygous for the deletion."

Clinical features: Hisey et al. (2020): "These misplaced cilia can cause discomfort, chronic keratitis, and corneal ulceration, potentially impacting vision due to corneal fibrosis, or, if secondary infection occurs, may lead to loss of the eye."

Breed: Friesian (Horse) (VBO_0000969).
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).