Categories: Vision / eye phene

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Disease-related: 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).
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).