OMIA:002187-9796 : Bilateral corneal stromal loss in Equus caballus
Categories: Vision / eye phene
Links to MONDO diseases: No links.
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‐linked 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 (Horse) (VBO_0000969).
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.|
- Created by Frank Nicholas on 30 Mar 2019
- Changed by Imke Tammen2 on 17 Aug 2021