Page 68 - Clinical variability in Noonan syndrome with emphasison ear and eye

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Table 2. Patients with permanent visual impairment of both eyes (n=7) in the total NS cohort (n=105)
Patient Vision and Refraction External Ocular Features Ocular Alignment Anterior Posterior and Motility Segment Segment
Genetic Findings
No. Gender Age Visual Ametropia Epican- Hyper- Ptosis Slanting Eyelid Strabismus Abnormal Abnormality Optic ONH
Mutation Nucleotide Change
Amino Acid Change
M/F (yrs) Acuity(BCVA) (SEA) or thus telorism Astigmatism
Fissures
Motility
Nerve C/D Abnormality Ratio
RE 1F100.3
2 M 36 0.1
3 M170.3
4 M 7 0.2
5 F 11 0.3
LE ≥ 1D
0.3 Myopia NR 0.1 Myopia Yes
Yes Yes Yes Yes Yes Yes NR Yes Yes NR Yes Yes NR NR
Downward
NR Esotropia Nystagmus
0.05 Hyperopia Yes 0.16 Hyperopia NR 0.3 Hyperopia NR 6 M 12 <0.3 <0.3 NR Yes
Downward Esotropia LE Nystagmus NR Esotropia Nystagmus
No Hypoplasia No No
NR NR
NR Atrophy NR NR
NR NR NR NR NR
No genetic analysis KRAS c.40G>A SHOC2 c.4A>G
No mutation identified* KRAS c.65A>G
p.Val14Ile p.Ser2Gly
7 M 19 0.15 0.15 Myopia NR (> 5D) and
Downward Exotropia NR Downward NR NR NR Yes NR
p.Gln22Arg
astigmatism
Yes SOM palsy RE
No Atrophy NR RAF1
p.Leu613Val p.Ser2Gly
Ocular findings were bilateral, if not specified with RE or LE; BCVA = best-corrected visual acuity; C/D = cup to disk ratio; F = female; LE = left eye; M = male; No = feature absent; NR = feature not recorded or examined; ONH = optic nerve head; RE = right eye; SEA = spherical equivalent of ametropia; SOM = superior oblique muscle.
*(in PTPN11, KRAS, BRAF, SOS1, CBL, SHOC2)
NR Atrophy >0.5
c.1837C>G SHOC2 c.4A>G