Table 3.
Clinical and molecular data of Early Onset Retinitis Pigmentosa patients.
| Patient | Age | Age of Onset | Nystagmus | BCVA † RE/LE ‡ | Fundus | MT § (µm) RE/LE ‡ | EZ Band ¶ | ERG # Scotopic RE/LE ‡ (μV) | ERG # Photopic RE/LE ‡ (μV) | Mutated Gene |
|---|---|---|---|---|---|---|---|---|---|---|
| 13 | 16 y | 2 y | no | 0.2/0.2 | RPE dystrophy | 101/105 | absent | u.n.l. | u.n.l. | - |
| 15 | 11 y | 2 y | no | HM/HM | RPE dystrophy | 154/142 | absent | n.a. | n.a. | CLN3 |
| 18 | 16 y | 2 y | no | 0.3/0.3 | “salt & pepper” | 205/197 | irregular | 61.4/69.2 | 55.5/62.1 | - |
| 19 | 18 y | 8 m | yes | 0.1/0.1 | RPE dystrophy | 114/157 | absent | u.n.l. | 26.1/13.4 | RP2 |
| 20 | 7 y | 2 y | no | 0.3/0.3 | RPE dystrophy | 126/119 | absent | u.n.l. | u.n.l. | - |
| 21 | 8 y | 9 m | yes | 0.3/0.3 | RPE dystrophy | 243/247 | absent | u.n.l. | u.n.l. | IQCB1 |
| 22 | 7 y | 9 m | yes | 0.008/0.008 | “salt & pepper” | 129/114 | absent | 11.6/1.14 | 4.96/4.66 | AIPL1 |
| 28 | 2 y | 8 m | yes | n.a. | normal | n.a. | n.a. | n.a. | n.a. | - |
| 31 | 8 y | 9 m | yes | 0.2/0.2 | “salt & pepper” | 168/173 | irregular | u.n.l. | u.n.l. | CEP290 |
| 32 | 10 y | 2 y | no | 0.05/0.05 | “salt & pepper” | 180/213 | absent | 14.8/25 | 12.2/1.22 | IQCB1 |
| 35 | 11 y | 9 m | yes | 0.2/0.2 | normal | 137/170 | irregular | u.n.l. | u.n.l. | - |
| 36 | 16 y | 2 y | no | 0.05/0.05 | “salt & pepper” | 192/215 | absent | u.n.l. | u.n.l. | TULP1 |
| 37 | 5 y | 1 y | no | 0.2/0.3 | RPE dystrophy | 101/104 | absent | u.n.l. | u.n.l. | CRB1 |
| 43 | 11 y | 8 m | no | 0.2/0.2 | RP | 165/180 | absent | u.n.l. | u.n.l. | - |
† Best corrected visual acuity (BCVA); ‡ Right eye (RE)/Left eye (LE); § Macular thickness (MT); ¶ Ellipsoid zone (EZ) band; # Electroretinogram (ERG); HM: Hand motion; LP: light perception; m: months; n.a.: not available; RP: Retinitis pigmentosa; RPE: retinal pigment epithelium; u.n.l.: under noise level; y: years.