Research Article

Assessment of Hereditary Retinal Degeneration in the English Springer Spaniel Dog and Disease Relationship to an RPGRIP1 Mutation

Table 1

Swedish ESS dogs with genotype-phenotype correlation in regards to the RPGRIP1 mutation. The sex of the dogs is indicated as M for males and F for females. The age of diagnosis is shown as years (y) and months (m) when dogs were first examined and diagnosed with PRA. For the dogs without PRA (normal), the most recent examination dates were used for age at examination. The genotypes are given as −/− for genetically affected, +/− for carriers, and +/+ for genetically clear individuals of the 44 bp deletion in exon 2 of the RPGRIP1 gene.

Dog numberSexAge at examinationPhenotypeRPGRIP1 genotype

ESS-008M2 y 4 mPRA−/−
ESS-014F3 y 8 mPRA−/−
ESS-004F5 y 9 mPRA+/−
ESS-006M5 y 7 mPRA+/−
ESS-016M7 y 3 mPRA+/−
ESS-020M9 y 8 mPRA+/−
ESS-003F5 y 4 mPRA+/+
ESS-005F3 y 1 mPRA+/+
ESS-007M11 y 4 mPRA+/+
ESS-009M4 y 6 mPRA+/+
ESS-015F8 y 3 mNormal+/+
ESS-017F5 y 11 mNormal+/+
ESS-018F12 y 1 mNormal+/+
ESS-019M7 y 10 mNormal+/+