Categories: Vision / eye phene

Single-gene trait/disorder: yes

Mode of inheritance: Autosomal recessive

Disease-related: yes

Key variant known: no

Species-specific symbol: PRA-CaBP4 (Moffat et al., 2024)

Clinical features: As reported by Somma et al. (2017), "The retinal dystrophy reported here in Whippet dogs has a unique phenotype of an initial lack of ERG b-wave, development of retinal bullae then a progressive generalized retinal degeneration".

Breed: Whippet (Dog) (VBO_0201421).
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).