Clinical and genetic data of Bietti crystalline dystrophy patients
| BCVA | Photopic standard ERG (µV) | Scotopic standard ERG (µV) | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Patient No | Age (years) | RE | LE | Fundus | RE | LE | RE | LE | Mutation |
| P1 | 29 | 0.6 | 1 | Choroidal sclerosis and crystalline deposits at the posterior pole and midperiphery | 76.3 | 80.4 | 151.6 | 143.9 | S122P/R465G |
| P1.1 | 41 | LP | LP | Extensive chorioretinal atrophy at the posterior pole and midperiphery with considerable narrowing of blood vessels | 0 | 0 | 0 | 0 | S122P/R465G |
| P1.2 | 45 | LP | LP | Extensive chorioretinal atrophy at the posterior pole and midperiphery with considerable narrowing of blood vessels | 0 | 0 | 0 | 0 | S122P/R465G |
| P2 | 40 | 1 | 1 | RPE dystrophy with crystalline deposits at the posterior pole | 94.9 | 111.2 | 70.8 | 163 | R232X/R390H |
| P3 | 37 | 0.6 | 0.9 | RPE dystrophy and choroidal sclerosis with crystalline deposits at the posterior pole and midperiphery | 80.3 | 104.7 | 147.2 | 216.3 | W93R/R465G |
| P3.1 | 41 | 0.4 | 0.1 | Diffuse RPE dystrophy with choroidal sclerosis and crystalline deposits at the posterior pole and midperiphery | 0 | 0 | 0 | 0 | W93R/R465G |
| P4 | 38 | 0.9 | 0.8 | RPE atrophy with pigment clumping and crystalline deposits at the posterior pole and midperiphery | 69.3 | 54.7 | 25.0 | 28.1 | K259Q*/R465G |
| P4.1 | 41 | 0.1 | 0.2 | RPE atrophy with pigment clumping and crystalline deposits at the posterior pole and midperiphery | 0 | 0 | 0 | 0 | I11T/R465G |
| P5 | 45 | 1 | 1 | RPE dystrophy with crystalline deposits at the posterior pole | 118.5 | 127.7 | 180.1 | 156.9 | 724delG/R443Q |
| P6 | 44 | 0.6 | 0.1 | RPE dystrophy with choroidal sclerosis and crystalline deposits at the posterior pole | 158.6 | 154.3 | 268.7 | 243.2 | G26S/R232X |
| P7 | 52 | 0.2 | 0.2 | RPE dystrophy with choroidal sclerosis and crystalline deposits at the posterior pole | 85 | 54.1 | 107.3 | 52.4 | R465G/- |
| P8 | 54 | 0.3 | 0.5 | Choroidal sclerosis with crystalline deposits at the posterior pole and midperiphery | 88.9 | 71.5 | 139.8 | 131.8 | R232X/R232X |
| P8.1 | 60 | HM | HM | Extensive chorioretinal atrophy at the posterior pole and midperiphery with considerable narrowing of blood vessels | 0 | 0 | 0 | 0 | R232X/R232X |
| P9 | 57 | 0.03 | 0.4 | RE: macular atrophy with crystalline deposits at the posterior pole; LE: RPE dystrophy with crystalline deposits at the posterior pole | 115.6 | 117.8 | 255.4 | 259.2 | I111T/I111T |
| P10 | 59 | 0.05 | 0.1 | RPE dystrophy with crystalline deposits at the posterior pole | 57.6 | 54.1 | 121.9 | 105.2 | I111T/I111T |
BCVA, best corrected visual acuity; ERG, electroretinogram; HM, hand motion; LE, left eye; LP, light perception; RE, right eye; RPE, retinal pigment epithelium.