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Distichiasis (intergenic region ECA13)

Ocular · Horse

Presence of ectopic eyelashes arising from the meibomian glands and contacting the cornea, causing chronic irritation, epiphora and keratitis or ulceration. A 16 kb intergenic deletion on ECA13 has been associated with the phenotype, without perfect concordance. Heritability uncertain. The test is complementary to the ophthalmological examination.
Inheritance patternInconclusive (dominant with incomplete penetrance, recessive or polygenic heritability have been proposed). Limited data.
Gene / Mutation16 kb intergenic deletion on ECA13 (g.178714_195130del). OMIA:001841.
PenetranceLimited data.
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Codewpkc
Turnaround time30 days
Price85,54 €
BreedsFrisón

Incidence

Frequencies and breeds: limited data.

Clinical signs

- Ectopic eyelashes from the meibomian line
- Epiphora and blepharospasm
- Punctate keratitis and possible corneal ulcer
- Photophobia and chronic conjunctival irritation

History

The dossier records a 16 kb deletion on ECA13 (ECA13:g.178714_195130del), in a region involved in histone packaging, without an assigned coding gene, based on a study with 19 cases and 75 controls. No author or year is stated.

Breeder management

- As heritability is uncertain, do not base selection on genotype alone
- Avoid breeding clinically affected animals
- Record cases and evaluate the offspring of affected lines
- Combine ophthalmological screening with the genetic test

Specialist notes

Differential diagnosis with trichiasis, ectopic cilia, entropion and blepharitis. Complementary: slit-lamp biomicroscopy and fluorescein staining.

References

1. OMIA:001841 Distiquiasis del caballo

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Price: 85,54 € · Turnaround time: 30 days

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