Hereditary Cataract

Bilateral and progressive lens opacity

Symptoms
Progressive loss of vision culminating in blindness

Gene involved
HSF4

Mutation tested
g.85286582insC

Transmission mode : Autosomal recessive

Publication : Mellersh et al. (2006). Identification of mutations in HSF4 in dogs of three different breeds with hereditary cataracts.

Gene involved
HSF4

Mutation tested
g.85286582delC

Transmission mode : Autosomal codominant
Specificity : Observation of two different forms of cataract :
- mild, early-onset, seldom leading to loss of vision
- severe, may affect vision
Remarcks : Heterozygotes may have the mild form, homozygous mutated dogs mainly develop the severe form.

Publication : Mellersh et al. (2009). Mutation in HSF4 is associated with hereditary cataract in the Australian Shepherd.