Page 55 - Clinical variability in Noonan syndrome with emphasison ear and eye

OCULAR MANIFESTATIONS OF NOONAN SYNDROME: A PROSPECTIVE STUDY OF 25 PATIENTS
Figure 4. Posterior embryotoxon (Patient 6)
Slit-lamp image of the corneal limbus of the right eye showing the anteriorly displaced Schwalbe line (arrows), (A) temporally and (B) nasally.
Our study shows some differences with earlier cohort studies of NS (18,19,25,26). In our patients, astigmatism and myopia were common findings, but not hyperopia as compared to the studies of Lee et al and Alfieri et al (26). We found epicanthic folds to be the most common abnormality, but we also included mild cases of epicanthic folds. We found a higher prevalence of ptosis as compared to previous studies (18,19,25,26). In previous reports symmetrical ptosis was evident. However, we found a marked asymmetry between the right and left eye as a characteristic manifestation of NS. Although palpebral fissures of patients with NS are described to be characteristically downward slanting (18,19,25). we found an equal number of patients with abnormal upward slanting palpebral fissures, which is a new ocular manifestation.
Marin et al described 35 patients with PTPN11 mutations, (19) with downward slanting palpebral fissures as their most frequent finding in 74 percent of the patients. They also described a high percentage of proptosis (26%), where we only could confirm mild proptosis in one patient with Hertel exophthalmometry. They found no cases of nystagmus and hypothesize that nystagmus is more frequent in individuals with SOS1 gene mutations (19). We found nystagmus in two patients: one with a BRAF mutation and one with PTPN11 mutation.
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