Table 3.
Demographic and clinical features for inherited retinal diseases related certification
| Diagnosis | Number of cases (% of total) |
Female (% of total) |
Age at certification Mean±SD (years) |
Childhood a (%) |
Working-agea (%) |
Older–agea (%) |
VA in better eye Mean±SD (logMAR) |
|---|---|---|---|---|---|---|---|
| All low vision certificates (N = 640) | |||||||
| RP | 349 (54.2%) | 49.3% | 46 ± 20 | 8.9% | 72.5% | 18.6% | 0.67 ± 0.66 |
| Stargardt disease | 77 (12.0%) | 59.5% | 37 ± 20 | 15.6% | 72.7% | 11.7% | 1.03 ± 0.49 |
| Macular dystrophy | 53 (8.2%) | 48.1% | 55 ± 24 | 0.0% | 62.3% | 37.7% | 0.73 ± 0.50 |
| Vitelliform dystrophy | 40 (6.2%) | 52.5% | 71 ± 23 | 5.0% | 22.5% | 72.5% | 0.50 ± 0.24 |
| Angioid streak/PXE | 25 (3.9%) | 56.0% | 59 ± 13 | 0.0% | 72.0% | 28.0% | 1.15 ± 0.63 |
| Syndromic RP | 25 (3.9%) | 56.0% | 38 ± 18 | 20.0% | 76.0% | 4.0% | 0.68 ± 0.71 |
| LCA | 20 (3.1%) | 45.0% | 16 ± 20 | 65.0% | 30.0% | 5.0% | 1.60 ± 0.84 |
| CDS/COD/CORD | 14 (2.2%) | 21.4% | 34 ± 20 | 21.4% | 64.3% | 14.3% | 1.16 ± 0.52 |
| Otherb | 37 (5.7%) | 37.8% | 41 ± 29 | 32.4% | 40.5% | 27.0% | 0.85 ± 0.62 |
| Blindness certificates (N = 404) | |||||||
| RP | 257 (63.6%) | 49.6% | 48 ± 18 | 4.7% | 76.3% | 19.1% | 0.77 ± 0.72 |
| Stargardt disease | 49 (12.1%) | 66.0% | 40 ± 21 | 10.2% | 75.5% | 14.3% | 1.29 ± 0.40 |
| Syndromic RP | 22 (5.4%) | 63.6% | 39 ± 18 | 18.2% | 77.3% | 4.5% | 0.67 ± 0.76 |
| Macular dystrophy | 18 (4.5%) | 33.3% | 57 ± 22 | 0.0% | 66.7% | 33.3% | 1.25 ± 0.46 |
| Angioid streak/PXE | 17 (4.2%) | 52.9% | 60 ± 12 | 0.0% | 70.6% | 29.4% | 1.47 ± 0.49 |
| LCA | 12 (3.0%) | 33.3% | 24 ± 23 | 50.0% | 41.7% | 8.3% | 1.91 ± 0.74 |
| CDS/COD/CORD | 9 (2.2%) | 22.2% | 33 ± 18 | 22.2% | 66.7% | 11.1% | 1.41 ± 0.47 |
| Vitelliform dystrophy | 4 (1.0%) | 50.0% | 47 ± 37 | 25.0% | 50.0% | 25.0% | 1.00 ± 0.00 |
| Otherb | 16 (4.0%) | 43.8% | 48 ± 22 | 12.5% | 68.8% | 18.8% | 1.28 ± 0.65 |
aPercentage of the total for each diagnosis, childhood is 0-15 years, working–age is 16-64 years and older-age is 65 years and over.
bOther includes retinal dystrophy not otherwise specified, gyrate atrophy, Bietti crystalline retinopathy and retinoschisis.
RP; retinitis pigmentosa; PXE = pseudoxanthoma elasticum, LCA; Leber congenital amaurosis, CDS; cone dysfunction syndrome, COD; cone dystrophy, CORD; cone-rod dystrophy, VA; visual acuity, SD; standard deviation, logMAR; logarithm of minimum angle of resolution, VA; visual acuity, PXE; pseudoxanthoma elasticum.