Table 2

Ocular examination in 24 patients with Rubinstein-Taybi syndrome: external aspect and anterior segment

PatientAgeSexStrabismus NystagmusLacrimal duct problemsCornea anomalies Intraocular pressure Iris anomalies Cataract
RELERELERELERELERELE
a4Mdiv alt+
b6Mi
c6M1516
d7Mdiv RE++++
e7Mdiv alt+
f8Fdiv alt
g9Fconv alt
h10F
i12Fdiv LEbuphbuph1314he+
j14M+
k15Mdiv alt
l15Mdiv LE++hyhy++
m15Fdiv alt
n19F++9+
o21Fdiv alt
p24Mconv LE+
q24Fdiv LE
r29Fdiv LEff
s30F++1418
t34Mdiv RE++pt
u36Fdiv alt
v37Fdiv LE
w43Mcy++#
x44Mdiv LE+
  • conv = convergent; div = divergent.

  • pt = pterygium; i = herpes infection; buph = buphthalmus.

  • measured with applanation tonometry.

  • he = heterochromia; hy = hypoplasia; f = flattened; cy = colobomatous eye, prosthesis after enucleation.

  • +# = congenital cataract and colobomata, prosthesis after enucleation