Page 49 - Clinical variability in Noonan syndrome with emphasison ear and eye

Table 1. Continued
Strabismus and Ocular Motility
Anterior Segment
Posterior Segment
No 0.3 10-10 No 0.7 11-13 No <0.3 13-13
No <0.3 12-12 No <0.3 12-12 No <0.3 11-11 No 0.5 10-12 No <0.3 NR
No <0.3 9-10 No <0.3 10-10 No <0.3 14-14 No <0.3 11-11 No <0.3 8-10 TRV <0.3 10-12 No <0.3 8-11 No 0.5 12-15 No <0.3 13-14 No 0.5 8-12 ONHH 0.3 18-20 No 0.6 8-12 No <0.3 12-12
TRV <0.3 12-13 No <0.3 NR No <0.3 10-11
No <0.3 10-12
Genetic Findings
c.922A>G c.922A>G
c.236A>G c.236A>G c.853T>C c.922A>G
c.922A>G c.922A>G c.1471C>T c.236A>G c.236A>G c.1644T>G c.179G>C c.182A>G c.1510A>G c.922A>G c.730A>C c.182A>G
c.40G>A c.1504T>A c.1510A>G
c.181G>A
OCULAR MANIFESTATIONS OF NOONAN SYNDROME: A PROSPECTIVE STUDY OF 25 PATIENTS
No No No
No Exotropia No
No Exotropia (s)
No
No Exotropia Esotropia No Esotropia No
No
No
No Esotropia (s) Exotropia No
Exotropia No Esotropia (s)
Exotropia
No No No
No No No No No
BE (n) No No BE BE BE BE BE No No BE (n) No BE
No No BE
BE
No
BE ≥10 BE ≥10
BE ≥10 No
BE <5 BE <5 BE <5
No
No
BE <5 BE <5 BE ≥5 BE ≥20 BE ≥10 BE ≥5 BE ≥10 BE ≥5 BE ≥10 No
BE ≥5
BE <5 No BE ≥5
No
BE BE No
No No BE No No
BE BE No No No No No No No No No No No
LE BE No
RE
PTPN11 PTPN11
No genetic analysis
PTPN11
PTPN11
PTPN11
PTPN11
No mutation identified
PTPN11
PTPN11
PTPN11
PTPN11
PTPN11
SOS1
PTPN11
PTPN11
PTPN11
PTPN11
BRAF
PTPN11
No genetic analysis
KRAS PTPN11 PTPN11
PTPN11
p.N308D p.N308D
p.Q79R p.Q79R p.F285L p.N308D
p.N308D p.N308D p.P491S p.Q79R p.Q79R p.S548A p.G60A p.D61G p.M504V p.N308D p.T244P p.D61G
p.V14I p.S502T p.M504V
p.D61N
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Strabismus
Limited Motility
Prominent Corneal Nerves
Posterior Embryotoxon
Retinal Abnormality
ONH C/D Ratio IOP (mm Hg)
Mutation
Nucleotide Change
Amino Acid Change