Table 1 Clinical characteristics of 17 probands.
Disease | RP | RP | USH2 | USH2 | BCD | BCD | STGD | RP | RP | RP | STGD | RP | RP | LCA | RP | RP | BBS | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Syndromic associations | NE | NE | SNHL | SNHL | NE | NE | NE | NE | NE | NE | NE | NE | NE | NE | NE | NE | Polydactyly, mental retardation, overweight | |
Fundus changes | BSPD, ARA, WOD | BSPD, WOD | BSPD, ARA, WOD | BSPD, ARA, WOD | WOD, Yellow-white crystalline particles are deposited | WOD, yellow-white crystalline particles are deposited | WOD, MA | BSPD, WOD | WOD, MA | BSPD, WOD, MA | WOD, MA, Flaky exudation around the atrophic focus | BSPD, ARA, WOD | BSPD, ARA, WOD | WOD | Uneven distribution of pigment | BSPD, WOD | WOD, leopard-print fundus changes | |
BCVA | OS | 0.5 | 0.12 | 0.15 | 0.4 | 0.25+ | 0.3 | 0.15 | HM | 0.4 | 0.4 | 0.5 | 1.0 | 0.1 | 0.02 | 0.1 | 0.15 | 0.1 |
OD | 0.5 | 0.2 | 0.15 | 0.3 | 0.8 | 0.12 | 0.25 | CF | 0.6- | 0.8 | 0.01 | 0.5+ | 0.8+ | 0.02 | 0.1 | 0.12 | 0.15 | |
SE | OS | -1.25DS/+2.25DC ×75° | -0.75DS/-1.50DC×35° | -3.25DS/-1.00DC×170° | -1.50DS/-0.50DC×125° | -2.25DS | -0.75DS/-1.00DC×10° | -2.00DS/-0.50DC×120° | -0.50DS/-1.00DC×115° | -0.75DS/-1.00DC×40° | -0.75DC×120° | -4.75DS/-0.75DC×115° | -3.50DS/-0.25DC×130° | -2.00DC×165° | + 4.50DS/+2.00DC×35° | -2.25DS/-2.50DC×175° | -3.75DS/-1.00DC×90° | -7.25DS/-5.75DC×175° |
OD | -1.75DS | -1.00DS/-1.25DC×140° | -4.25DS | -2.00DC×35° | -2.00DS/-0.50DC×65° | -1.00DS/-0.25DC×90° | -3.25DS | -0.75DS/-0.50DC×80° | -0.25DS/-1.00DC×120° | PL | -3.75DS/-1.25DC×105° | -10.00DS/-0.50DC×40° | -3.50DS/-1.50DC×175° | + 3.50DS/+2.50DC×120° | -0.75DS/-3.00DC×170° | -2.75DS/-1.00DC×70° | -6.50DS/-4.00DC×180° | |
Age at onset | 20 | From Childhood | 17 | 19 | 14 | 39 | 7 | 15 | 9 | 29 | 53 | 51 | 20 | From Childhood | 17 | 51 | From Childhood | |
Age of visit | 20 | 44 | 32 | 39 | 25 | 39 | 7 | 32 | 19 | 32 | 56 | 71 | 26 | 6 | 17 | 54 | 5 | |
Gender | M | F | M | M | M | F | M | F | M | F | M | F | M | M | M | F | F | |
Famly ID | F1 | F2 | F3 | F4 | F5 | F6 | F7 | F8 | F9 | F10 | F11 | F12 | F13 | F14 | F15 | F16 | F17 | |
