Table 1.
X-Linked Retinitis Pigmentosa (XLRP), Cone–Rod Dystrophy (CRD), RP Isolate (RPiso); Mainzer-Saldino Syndrome (MSS), Autosomal Recessive RP (arRP), Autosomal Dominant RP (adRP), Autosomal Dominant Pattern Dystrophy (adPD), Autosomal Dominant Macular Dystrophy (adMD), and Sphere (sph)
|
Subject # |
Age, Years |
Mutated Gene |
Diagnosis |
BCVA OD/OS, logMAR |
Refraction OD |
Refraction OS |
Exams |
| 1301 | 38 | RPGR | XLRP | 0.2/0.2 | −12.00 + 1.25 × 118 | −13.50 + 2.00 × 060 | † |
| 4338 | 69 | RPGR | XLRP carrier | 0.1/0.0 | +0.75 + 2.00 × 028 | Plano +2.00 × 036 | * |
| 4339 | 32 | RPGR | XLRP | 1.4/1.3 | −4.00 sph | −4.00 sph | *‡ |
| 4880 | 70 | RHO | adRP | 0.5/0.2 | +1.50 + 1.50 × 010 | −0.50 + 0.50 × 180 | *† |
| 5730 | 25 | CRB1 | CRD | 0.7/0.6 | +1.00 + 2.50 × 120 | +0.50 + 2.50 × 071 | * |
| 5931 | 64 | PRPH2 | adPD | 0.1/0.1 | +0.50 + 0.75 × 174 | −0.75 + 1.00 × 170 | *‡ |
| 6472 | 38 | RPGR | XLRP | 0.4/0.6 | −4.50 − 0.75 × 080 | −5.00 − 0.75 × 110 | * |
| 7566 | 25 | RPGR | XLRP | 0.5/0.5 | −9.50 + 2.00 × 100 | −9.50 + 2.25 × 085 | * |
| 7685 | 44 | RPGR | XLRP | 0.9/1.2 | −3.25 + 1.75 × 125 | −2.75 + 1.75 × 065 | † |
| 7773 | 37 | USH2A | arRP | 0.3/0.4 | −0.25 + 0.50 × 090 | −5.00 + 0.50 × 080 | †‡ |
| 7807 | 54 | Unknown | RPiso | −0.1/0.1 | −1.25 + 1.00 × 152 | −2.25 + 0.75 × 043 | * |
| 8126 | 20 | IMPDH1 | adRP | 0.0/0.1 | −4.25 + 2.50 × 90 | −4.75 + 2.75 × 082 | *‡ |
| 8538 | 42 | PRPH2 | adRP | 0.2/0.1 | +0.25 + 0.75 × 60 | −0.50 sph | *†‡ |
| 8866 | 59 | PRPH2 | adMD | 0.3/0.6 | +0.75 + 1.00 × 152 | +0.75 + 1.00 × 179 | * |
| 9457 | 75 | Unknown | RPiso | 0.3/0.5 | +0.75 + 0.50 × 160 | −1.00 + 1.25 × 178 | * |
| 9503 | 54 | Unknown | RPiso | 0.0/0.1 | +2.25 sph | +1.00 sph | * |
| 9795 | 43 | RPGR | XLRP carrier | 0.6/0.6 | Plano −2.00 × 075 | −1.00 − 0.75 × 175 | * |
| 9852 | 18 | RPGR | XLRP | 0.4/0.4 | Plano | Plano | * |
| 10313 | 42 | RHO | adRP | 0.3/1.0 | Plano +1.50 × 095 | Plano + 1.50 × 085 | † |
| 10669 | 17 | RP2 | XLRP | 0.5/0.9 | −2.25 + 2.00 × 104 | −1.50 + 2.50 × 085 | * |
| 10924 | 33 | USH2A | RPiso | 0.2/0.2 | −4.50 sph | −1.50 sph | *†‡ |
| 11179 | 45 | RPGR | CRD | 0.7/0.7 | −2.00 + 1.25 × 143 | −0.75 sph | * |
| 11313 | 31 | PRPH2 | adMD | 0.0/0.5 | −3.00 − 2.75 × 0 | −2.00 − 1.75 × 166 | *†‡ |
| 11314 | 16 | RHO | adRP | 0.3/0.2 | −5.25 + 0.75 × 119 | −5.50 + 1.50 × 036 | *†‡ |
| 11344 | 33 | USH2A | RPiso | 0.3/0.5 | Plano | Plano | * |
| 11685 | 10 | RPGR | XLRP | 0.2/0.2 | −3.75 + 2.75 × 104 | −4.75 + 2.00 × 072 | *†‡ |
| 11687 | 40 | RPGR | XLRP carrier | 0.5/0.1 | Plano | Plano | *†‡ |
| 11728 | 59 | PRPH2 | adPD | 0.3/0.4 | Plano | Plano | *†‡ |
| 91839 | 73 | PRPF31 | adRP | 0.0/−0.1 | Plano +1.25 × 170 | +0.25 + 1.00 × 011 | * |
| 92366 | 36 | USH2A | Usher II | 0.2/0.2 | P3.00 + 0.75 × 107 | −3.75 + 1.25 × 067 | * |
| 92388 | 52 | Unknown | Rpiso | 0.5/0.3 | +0.25 + 2.25 × 130 | +0.75 + 1.25 × 070 | * |
| 92394 | 58 | Unknown | adRP | 0.3/0.5 | −1.00 + 1.00 × 153 | −0.25 + 0.50 × 160 | * |
| 92416 | 15 | IFT140 | MSS | 0.3/0.2 | Plano | Plano | * |
| 92436 | 23 | RPGR | XLRP | 0.1/0.1 | −1.25 + 1.25 × 164 | −0.75 + 0.75 × 006 | * |
| 92437 | 44 | USH2A | Usher II | 0.2/0.1 | −1.50 − 0.75 × 110 | −2.00 − 0.25 × 090 | *†‡ |
| 94280 | 49 | USH2A | arRP | 0.2/0.1 | −1.00 + 1.00 × 153 | −1.00 + 0.75 × 065 | *† |
| 94308 | 19 | RP1 VUS | RPiso | 0.2/0.2 | −4.00 + 2.75 × 083 | −3.25 + 3.50 × 078 | * |
| 94388 | 33 | CNGA3 | CRD | 0.3/−0.1 | Plano | Plano | * |
| 94395 | 32 | Unknown | RPiso | 0.4/0.3 | −7.75 + 2.25 × 100 | −7.00 + 2.75 × 090 | * |
*
Intrasession repeat testing.
†
Intersession repeat testing.
‡
Fixation testing.