Table 2 Diagnostic yield per initial diagnosis of the proband.
From: Highly efficient capture approach for the identification of diverse inherited retinal disorders
Phenotype | Female | (%) | Solved rate | (%) | Receive molecular diagnosis (%) | Sporadic | (%) | Age | (range) | Onset age | (range) | VA (OD) | (Range) | VA (OS) | (range) | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AS | 0/1 | 0.00 | 0/1 | 0.00 | 0/1 | 0.00 | 1/1 | 100.0 | 57.8 | (57.8, 57.8) | 48.0 | (48.0, 48.0) | 0.2 | (0.16, 0.16) | 2.4 | (2.40, 2.40) |
BBS | 1/2 | 50.00 | 1/2 | 50.00 | 1/2 | 50.0 | 1/2 | 50.0 | 47.8 | (29.5, 66.2) | 19.0 | (3.00, 35.0) | 2.4 | (2.10, 2.70) | 2.6 | (2.40, 2.70) |
BCD | 9/13 | 69.23 | 12/13 | 92.31 | 12/13 | 92.3 | 10/13 | 76.9 | 57.2 | (40.0, 76.9) | 32.8 | (20.0, 45.0) | 1.1 | (0.00, 2.70) | 1.1 | (0.22, 2.70) |
BVMD | 0/1 | 0.00 | 1/1 | 100.00 | 1/1 | 100.0 | 0/1 | 0.00 | 62.4 | (62.4, 62.4) | 40.0 | (40.0, 40.0) | 1.8 | (1.78, 1.78) | 1.3 | (1.30, 1.30) |
CD | 2/2 | 100.00 | 1/2 | 50.00 | 2/2 | 100.0 | 2/2 | 100.0 | 51.5 | (35.5, 67.4) | 31.5 | (3.00, 60.0) | 0.9 | (0.22, 1.52) | 1.5 | (1.30, 1.70) |
Choroideremia | 1/9 | 11.11 | 7/9 | 77.78 | 7/9 | 77.8 | 2/9 | 22.2 | 47.8 | (19.9, 66.5) | 21.9 | (1.00, 55.0) | 0.8 | (0.00, 2.40) | 0.8 | (0.00, 2.70) |
CRD | 17/43 | 39.53 | 23/43 | 53.48 | 30/43 | 69.8 | 29/43 | 67.4 | 50.6 | (17.9, 72.7) | 26.8 | (3.00, 65.0) | 1.5 | (0.00, 3.00) | 1.3 | (0.00, 3.00) |
LCA | 15/19 | 78.95 | 16/19 | 84.21 | 17/19 | 89.5 | 15/19 | 78.9 | 34.4 | (1.83, 82.3) | 9.41 | (0.50, 46.0) | 1.4 | (0.00, 2.70) | 1.4 | (0.00, 2.70) |
MD | 5/9 | 55.56 | 4/9 | 44.44 | 7/9 | 77.8 | 6/9 | 66.7 | 58.4 | (26.0, 74.1) | 38.0 | (15.0, 63.0) | 0.5 | (0.00, 1.30) | 1.0 | (0.00, 2.40) |
Optic atrophy | 1/1 | 100.00 | 1/1 | 100.00 | 1/1 | 100.0 | 1/1 | 100.0 | 12.2 | (12.2, 12.2) | 3.00 | (3.00, 3.00) | 0.8 | (0.80, 0.80) | 0.8 | (0.80, 0.80) |
RP | 136/273 | 49.82 | 128/273 | 46.89 | 168/273 | 61.5 | 193/273 | 70.7 | 50.9 | (0.00, 96.4) | 25.8 | (0.25, 74.0) | 1.1 | (0.00, 3.00) | 1.1 | (0.00, 3.00) |
RPA | 1/2 | 50.00 | 2/2 | 100.00 | 2/2 | 100.0 | 1/2 | 50.0 | 37.6 | (21.6, 53.6) | 16.5 | (3.00, 30.0) | 0.7 | (0.10, 1.30) | 1.4 | (1.00, 1.70) |
RS | 0/2 | 0.00 | 2/2 | 100.00 | 2/2 | 100.0 | 0/2 | 0.00 | 19.3 | (15.3, 23.3) | 7.00 | (7.00, 7.00) | 0.5 | (0.52, 0.52) | 0.5 | (0.52, 0.52) |
SD | 2/5 | 40.00 | 5/5 | 100.00 | 5/5 | 100.0 | 5/5 | 100.0 | 37.1 | (25.0, 60.2) | 22.0 | (6.00, 55.0) | 1.3 | (0.22, 2.10) | 1.5 | (0.52, 2.10) |
SS | 2/5 | 40.00 | 3/5 | 60.00 | 5/5 | 100.0 | 4/5 | 80.0 | 52.3 | (4.25, 73.6) | 32.9 | (0.25, 50.0) | 1.4 | (0.16, 2.70) | 1.7 | (0.70, 3.00) |
US | 19/38 | 50.00 | 24/38 | 63.16 | 31/38 | 81.6 | 26/38 | 68.4 | 44.6 | (0.00, 83.3) | 23.8 | (0.08, 60.0) | 1.0 | (0.00, 3.00) | 1.0 | (0.00, 3.00) |
Total | 211/425 | 49.65 | 229/425 | 53.88 | 291/425 | 68.5 | 296/425 | 69.6 | 49.5 | (0.00, 96.4) | 25.0 | (0.08, 74.0) | 1.1 | (0.00, 3.00) | 1.1 | (0.00, 3.00) |
