Table 1. .
Clinical Summary of 31 arRP Families
|
Family ID |
Proband Age, y/Sex |
No. of Affected |
BCVA, OD/OS |
Additional Information of Proband |
| 4255 | 42/M | 2 | 0.4/0.1 | Photophobia for 2 years |
| 4257* | 29/M | 1 | 0.4/0.4 | −4.5DS; −5.0DS |
| 4258 | 44/F | 2 | 0.3/0.4 | Normal hearing; cystic macular edema |
| 4259 | 39/F | 1 | HM/HM | Photophobia for 4 years |
| 4263* | 9/M | 1 | 0.08/0.1 | −4.50DS–3.25DCX180; −4.50DS–3.25DCX180 |
| 4264 | 32/M | 1 | HM/HM | N/A |
| 4268 | 31/M | 3 | FC/0.03 | Nystagmus |
| 4270 | 39/M | 2 | FC/FC | N/A |
| 4271 | 28/M | 1 | HM/0.7 | OD is more severe than OS |
| 4273 | 43/M | 2 | 0.9/0.7 | N/A |
| 4274 | 52/M | 3 | LP/NLP | Dense cataracts; left eye trauma history |
| 4275 | 25/F | 2 | HM/HM | Nystagmus |
| 4277* | 48/M | 2 | LP/HM | N/A |
| 4278 | 41/M | 2 | HM/NLP | Dense cataracts |
| 4279 | 42/M | 1 | 0.1/0.2 | Dense confluent retinal pigments |
| 4280 | 27/M | 2 | 0.03/0.01 | Photophobia for 3 years |
| 4282* | 36/M | 2 | 0.06/0.1 | Epiretinal membrane |
| 4283 | 41/F | 2 | 0.2/0.2 | +0.75DS+1.75DCX90; +1.50DS+1.00DCX90; photophobia for 2 years |
| 4285 | 32/M | 2 | 1.0/1.0 | −2.00DS–1.75DCX80; −1.50DS; normal hearing |
| 4286 | 21/M | 3 | 0.9/0.2 | Emmetropia |
| 4287 | 55/F | 2 | 0.6/0.9 | Normal hearing |
| 4288 | 41/M | 2 | LP/LP | N/A |
| 4289 | 33/F | 2 | 1.0/0.9 | Emmetropia |
| 4290 | 28/M | 2 | 1.2/0.8 | Emmetropia |
| 4291 | 39/M | 2 | 0.08/0.05 | Affected brother has coats like retinal exudates |
| 4292 | 36/F | 2 | 1.0/0.7 | Cystic macular edema |
| 4293 | 40/M | 3 | 0.02/0.02 | Emmetropia |
| 4294* | 40/M | 1 | 0.1/LP | N/A |
| 4295* | 48/F | 2 | 0.6/0.6 | Emmetropia |
| 4296 | 53/F | 2 | 0.03/0.03 | Emmetropia |
| 4297 | 60/F | 2 | 0.03/0.03 | Dense cataracts |
BCVA (decimal Snellen); OD, right eye; OS, left eye; DS, diopter of spherical; DC, diopter of cylindrical; HM, hand motion; FC, finger counting; LP, light perception; NLP, no light perception.
*
Consanguineous families.