Table 3. Genotype-phenotype- correlation in MLHDs of sporadic retinopathy cases and controls.
|
Phenotype |
RPGRIP1 genotype |
Total number of dogs |
||
|---|---|---|---|---|
|
+/+ |
+/− |
−/− |
||
| Control |
81 (41%) |
87 (44%) |
32 (16%) |
200 |
| PRA |
6 (10%) |
6 (10%) |
47 (80%) |
59 |
| SARD |
4 (80%) |
0 (0%) |
1 (20%) |
5 |
| Total | 89(33%) | 93 (35%) | 82 (33%) | 264 |
Correlation of the retinal phenotype and the RPGRIP1 insertion genotype were studied in dogs of the Japanese MLHD pet population. Sporadic cases of PRA and sudden acquired retinal degeneration (SARD), and controls with no apparent visual dysfunction showed substantial discordance seen in controls dog with RGPRIP1−/− and PRA cases that were not RPGRIP1−/−. RPGRIP1 genotypes are denoted as follows: wildtype homozygote (+/+); heterozygote (+/−); insertion homozygote (−/−).