Table 1 of Miyadera, Mol Vis 2009; 15:2287-2305. Table 1 of Miyadera, Mol Vis 2009; 15:2287-2305.
Table 1. Progression of the PRA phenotype in 18 related MLHDs.
| Dog ID |
RPGR1P1 genotype |
Sex |
Age (years) |
Clinical signs |
Scotopic ERG |
Funduscopy | Menace reaction |
PLR |
Dazzle reflex |
|
|---|---|---|---|---|---|---|---|---|---|---|
| Tapetal reflectivity | Retinal vessels | |||||||||
| MLD21 | - / - | M | 5 | Blind (<<5y~) | ND | ↑ | ↓↓ | 0 | 1 | 0 |
| MLD1 | - / - | F | 6.3 | NA | ↓ | ↑ (periphery) | ↓ (slight) | 2 | 1 | 2 |
| 9.2 | NA | ND | ND | ↓ (periphery, severe) | 2 | 1 | 1.5 | |||
| 10.6 | Blind | ND | ND | ↓ | 0 | 1 | 0 | |||
| MLD2 | - / - | F | 5.2 | Blind (3y~) | ND | ND | ↓↓ | 0 | 1 | 0 |
| 7.9 | Blind | ND | ND* | ND* | 0 | 0 | 0 | |||
| 9.4 | Blind | ND | ND* | ND* | 0 | 0 | 0 | |||
| MLD3 | - / - | F | 3.6 | NA | ↓ | ND** | NA | 2 | 2 | 2 |
| 6.4 | NA | ND | ND** | ↓ (periphery, slight) | 2 | 2 | 2 | |||
| 7.8 | NA | ND | Pigmentation (non-tapetum) | ↓ | 2 | 1 | 1 | |||
| MLD4 | - / - | F | 2.4 | Mydriasis | ↓↓↓ (flat) | ↑ (perifery) | ↓ (periphery) | 2 | 1 | 1 |
| 5.2 | Blind | ND | ↑ | ↓↓ | 0 | 1 | 1 | |||
| 6.6 | Blind | ND | ↑ | ↓↓ | 0 | 0 | 0 | |||
| MLD5 | - / - | M | 5.2 | NA | ↓ | ↑ (perifery) | ↓ (periphery) | 2 | 2 | 2 |
| 7.9 | NA | ND | ↑ (slightly) | ↓ (periphery, slight) | 2 | 2 | 2 | |||
| 9.4 | NA | ND | ↑ | ↓ | 1 | 1 | 1 | |||
| MLD6 | - / - | M | 3.3 | NA | ↓ | ↑ (perifery) | NA | 2 | 2 | 2 |
| 6 | NA | ND | NA | NA | 2 | 2 | 2 | |||
| 7.5 | NA | ND | Degeneration (periphery) | NA | 2 | 2 | 2 | |||
| MLD7 | - / - | M | 5.2 | NA | ↓ | ↑ (perifery) | ↓ (periphery) | 2 | 1 | 1 |
| 7.9 | NA | ND | Choroidal vessels visible (periphery) | NA | 2 | 2 | 2 | |||
| 9.4 | NA | ND | Pigmentation (non-tapetum) | ↓ | 0/1 | 1 | 1 | |||
| MLD9 | - / - | M | 2.4 | Mydriasis (slight) | ↓ | ↑↓ (periphery) | NA | 2 | 1 | 1 |
| 5.2 | NA | ND | Depigmentation (non-tapetum) | ↓ (slight) | 2 | 2 | 2 | |||
| 6.6 | Blind | ND | ↑ | ↓↓ | 0 | 0 | 1 | |||
| MLD10 | - / - | F | 0.4 | NA | ↓ | NA | NA | 2 | 2 | 2 |
| 3.3 | NA | ND | NA | NA | 2 | 1 | 2 | |||
| 4.7 | NA | ND | ↑ (slightly) | ↓ (periphery) | 2 | 1 | 2 | |||
| MLD8 | - / - | M | 2.8 | NA | NA | NA | NA | 2 | 2 | 2 |
| 4.2 | NA | ND | NA | NA | 2 | 2 | 2 | |||
| MLD11 | - / - | M | 2.3 | NA | ND | ↓ (periphery) | NA | 2 | 2 | - |
| 3.8 | NA | ND | Degeneration (periphery) | NA | 2 | 2 | 2 | |||
| MLD12 | - / - | F | 2.8 | NA | ND | NA | NA | 2 | 2 | 2 |
| 4.3 | NA | ND | NA | NA | 2 | 2 | 2 | |||
| MLD13 | + / - | F | 2.2 | NA | NA | ↑ (disseminated) | NA | 2 | 2 | 2 |
| 3.7 | NA | ND | Abnormal reflection (partially) | NA | 2 | 2 | 2 | |||
| MLD14 | + / - | F | 1.9 | NA | ND | NA | NA | 2 | 2 | 2 |
| 3.3 | NA | ND | NA | NA | 2 | 39845 | 1 | |||
| MLD15 | + / + | F | 10.1 | NA | ND | NA | NA | 2 | 1 | 2 |
| 11.6 | NA | ND | NA | NA | 2 | 1 | 2 | |||
| MLD18 | + / + | M | 8.3 | NA | ND | NA | NA | 2 | 1 | 2 |
| 9.8 | NA | ND | NA | NA | 2 | 0 | 2 | |||
| MLD19 | + / + | F | 8.3 | NA | ND | NA | NA | 2 | 2 | 2 |
| 9.8 | NA | ND | Pigmentation (periphery) | NA | 2 | 1 | 2 | |||