Page 66 - Clinical variability in Noonan syndrome with emphasison ear and eye

CHAPTER 4
Table 1. Ocular features of mutation-positive and mutation-negative patients with Noonan syndrome (retrospective study; n = 105)
Vision and refraction
Visually impaired (both eyes BCVA <0.3) Amblyopia (including in history)
Myopia (SEA ≥ 1D)
High myopia (≥ 5D) Hyperopia (SEA ≥ 1D)
High hyperopia (≥ 5D) Astigmatism (≥ 1D)
High astigmatism (≥ 5D) External ocular features
Hypertelorism
Ptosis
Epicanthic folds
Downslanting palpebral fissures Upslanting palpebral fissures Proptosis / pseudo-proptosis
Strabismus and ocular motility Strabismus
Limited ocular motility Nystagmus
n=105 n=50 n=10 n=7 n=5 n=1 n=4
7 0 0 1 2 0 2 28 12 2 3 0 1 2 25 10 4 2 2 0 2 53 0 0 0 0 1 39 23 1 1 2 1 2
2 1 0 0 0 0 0 35 21 1 3 0 1 1 3 2 0 0 0 0 0
63 30 8 6 2 11
n=1 n=27
0 2 0 8 1 4 0 1 0 9 0 1 0 8 0 1
Prominent corneal nerves Corneal opacities Posterior embryotoxon Iris coloboma
2 0 1 1 0 0 2 1 0 1 1 0
00 0 0 10 0 0
0 0 0 0 0 0 0 0
0 1 1 0 0 0 0 0
55 21 8 51
1 14 1 2 1 16
32 13 39 18 2 1 8 3
40 17 9 2
3 2 5 5 0 0 1 1
0 3
1 1 1 1 0 0 1 0
4 1 2 1 2 0
1 0 11 0 0 9 0 0 1 0 0 2
4 0 11 0 0 2 3 0 2
0 2 16 5 1 3
Anterior ocular segment
Keratoconus 420000002
Cataract 311100000 Posterior ocular segment
Optic nerve head abnormalities 10 5 1 0 1 0 0 1 2 Excavation (C/D ratio ≥0.5) 8 4 1 0 1 0 0 1 1 Coloboma 110000000 Hypoplasia 100000001
Optic nerve head paleness 8 2 0 2 1 0 1 0 2 Optic atrophy 5 1 0 1 1 0 1 0 1 Retinopathy 100100000
BCVA = best-corrected visual acuity; C/D ratio = cup to optic disc ratio; SEA = spherical equivalent of ametropia.
64
Total
PTPN11
SOS1
RAF1
SHOC2
MAP2K2
KRAS
A2ML
No mutation