OMIA 002187-9796 : Bilateral corneal stromal loss in Equus caballus

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: no

Species-specific symbol: BCSL

Inheritance: Alberi et al. (2018) provided pedigree evidence compatible with X-linked inheritance, which is consistent with the higher incidence in males than in females reported by Boerma et al. (2012) (8/9) and Alberi et al. (2018) (11/15).

Molecular basis: Sequencing of a positional (X-linked) candidate gene (BGN, encoding biglycan) led to Alberi et al. (2018) "Ruling out BGN variants as simple X‚Äźlinked causative mutations for bilateral corneal stromal loss in Friesian horses".

Clinical features: Alberi et al. (2018): "Bilateral corneal stromal loss (BCSL), [is] a disorder characterized by focal, symmetric thinning of the inferior peripheral corneal stroma unaccompanied by inflammation".

Breed: Friesian.

References


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2018 Alberi, C., Hisey, E., Lassaline, M., Atilano, A., Kalbfleisch, T., Stoppini, R., Hermans, H., Back, W., Mienaltowski, M.J., Bellone, R.R. :
Ruling out BGN variants as simple X-linked causative mutations for bilateral corneal stromal loss in Friesian horses. Anim Genet 49:656-657, 2018. Pubmed reference: 30246344. DOI: 10.1111/age.12726.
2012 Boerma, S., Back, W., van Oldruitenborgh-Oosterbaan, M.M.S. :
The Friesian horse breed: A clinical challenge to the equine veterinarian? Equine Veterinary Education 24:66-71, 2012.

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  • Created by Frank Nicholas on 30 Mar 2019