Ocular examination in 24 patients with Rubinstein-Taybi syndrome: visual acuity, refraction, funduscopy, and electrophysiology
| Age | Photo- phobia | Retina | ERG¤ | VEP | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Visual acuity | Refraction (spher eq) | macula | optic disc | other | |||||||||||||
| RE | LE | ODS | RE | LE | RE | LE | RE | LE | |||||||||
| a | 4 | nm | nm | 0.5 | S+1 | S+1 | − | M (r,f) | M (r,f) | − | − | − | nm | N | |||
| b | 6 | nm | nm | 0.3 | S+1 | S+0.5 | + | − | − | − | − | − | C, R | abn | |||
| c | 6 | 1.0 | 1.0 | 1.0 | S+4.75 | S+5 | + | M (f) | M (f) | − | − | − | nm | abn | |||
| d | 7 | 0.5 | 0.5 | 0.75 | E | E | − | M (f) | M (f) | p | p | − | C | abn | |||
| e | 7 | 1.0 | 1.0 | 1.0 | E | E | − | M (r,f) | M (r,f) | e | e | − | C, R | abn | |||
| f | 8 | 1.0 | 1.0 | 1.0 | S+2.5 | S+2.5 | + | M (r) | M (r) | − | − | − | C | abn | |||
| g | 9 | 0.3 | 0.25 | 0.5 | S−2 | S−2 | + | − | − | − | − | − | nm | N | |||
| h | 10 | 1.0 | 1.0 | 1.0 | E | E | − | − | − | e | e | − | N | N | |||
| i | 12 | 0.75 | NLP | 0.75 | E | nm | − | M (r) | M (m) | e | e | − | N | abn | |||
| j | 14 | 0.75 | 0.5 | 0.75 | S−2.5 | S−7.5 | − | M (m) | M (m) | p | − | − | C | N | |||
| k | 15 | 0.5 | 0.5 | 0.5 | S+2.5 | S+2.5 | + | M (r) | M (r) | p | p | − | C | abn | |||
| l | 15 | 0.75 | 0.5 | 0.75 | S+1 | S+1 | − | − | M (f) | e | e | − | N | N | |||
| m | 15 | 1.0 | 1.0 | 1.0 | S−2 | S−2 | + | − | − | e | e | − | nm | N | |||
| n | 19 | LP | 0.5 | 0.5 | nm | S−9 | + | ne | S (PE) | nm | p | − | C, R | abn | |||
| o | 21 | nm | nm | 0.3 | S+2 | S+3 | + | ne | ne | − | − | − | nm | abn | |||
| p | 24 | 0.5 | 0.25 | 0.5 | S+1 | S+1 | − | − | M (PE) | − | − | − | C, R | N | |||
| q | 24 | 0.5 | 0.5 | 0.5 | S−1.5 | S−1 | − | M (f) | M (f) | e | − | − | C, R | abn | |||
| r | 29 | 0.75 | 0.5 | 0.75 | S−3 | S−19 | − | S (PE) | S (PE) | m | m | − | C | abn | |||
| s | 30 | 0.75 | 0.75 | 0.75 | S−6.5 | S−7 | − | − | − | − | e | − | N | N | |||
| t | 34 | 0.25 | 0.3 | 0.3 | S−7 | S−7 | + | S (PE) | S (PE) | m | m | − | C | abn | |||
| u | 36 | 0.5 | 0.5 | 0.5 | S+3 | S+2.5 | + | S (PE) | S (PE) | e | e | − | C | abn | |||
| v | 37 | 0.5 | 0.5 | 0.5 | S−2 | S−1.5 | − | M (r) | M (r) | e,p | e,p | c | C, R | abn | |||
| w | 43 | 0.1 | NLP | 0.1 | S−2.5 | pros | − | M (r) | pros | p | pros | C | N | ||||
| x | 44 | 0.25 | LP | 0.25 | S−22 | S−22 | + | S (deg) | S (deg) | m | m | − | nm | abn | |||
↵nm = not measurable.
↵M = mild changes; S = severe changes;r = abnormal or absent reflexes; f = fovea too red; PE = pigment epithelium alterations; ne = could not be examined in detail; m = myopic; deg = myopic degeneration; pros = prosthesis.
↵e = excavated; m = myopic, p = pale; pros = prosthesis.
↵c = coloboma.
¤nm = not measured; C = decreased cone responses; R = decreased rod responses; N = normal.
↵N = normal;abn = abnormal.