Home / Veterinary / Diseases and genes

Ocular squamous cell carcinoma (DDB2) — breeds at risk

Ocular · Horse

Ocular and periocular surface neoplasia (limbus, third eyelid, eyelids) favoured by UV exposure and depigmentation. The variant in DDB2 (nucleotide excision DNA repair) acts as a risk factor, not a causal one. It presents with an ulcerated mass, blepharospasm, epiphora and keratitis. The genetic test is complementary to the clinical examination and biopsy.
Inheritance patternRisk factor (not simple mendelian).
Gene / MutationDDB2 g.11726667C>T (c.1013C>T; p.Thr338Met; rs1139682898). OMIA:000735.
PenetranceLimited data (risk factor, not causal).
Sample type0,5-1 ml sangre-EDTA o 20-30 pelos de la crin o la cola
Codemwtq
Turnaround time15 days
Price52,60 €
BreedsTiro belga, Haflinger

Incidence

Tiro belga, Connemara, Haflinger, Noric, Rocky Mountain Horse, Warmblood and Welsh Pony. Frequencies: limited data.

Clinical signs

- Exophytic or ulcerated ocular or periocular mass
- Blepharospasm, epiphora and photophobia
- Keratitis and possible corneal ulcer
- Higher risk in areas of high UV radiation and in depigmented skin/eyes
- Possible regional lymphadenopathy due to metastasis

History

The dossier records OMIA:000735 and the variant DDB2 NC_009155.3:g.11726667C>T (c.1013C>T; p.Thr338Met; rs1139682898). No author or year is stated.

Breeder management

- As it is a risk factor and not a cause, do not eliminate breeding animals on genotype alone
- Avoid concentrating lines with a high familial incidence
- Sun protection and regular ocular examination
- Confirm by biopsy before making selection decisions

Specialist notes

Differential diagnosis with sarcoid, basal cell carcinoma, melanoma and conjunctival habronemiasis. Complementary: cytology, biopsy and lymph node inspection.

References

1. OMIA:000735 Carcinoma de células escamosas ocular del caballo

Add to cart

Price: 52,60 € · Turnaround time: 15 days

Add to cart

← Back to the search