Page 47 - Clinical variability in Noonan syndrome with emphasison ear and eye

OCULAR MANIFESTATIONS OF NOONAN SYNDROME: A PROSPECTIVE STUDY OF 25 PATIENTS
Ophthalmologic history
Eighteen patients (72%) had been seen by an ophthalmologist before their participation in this study. Eight patients (32%) had a history of occlusion therapy for amblyopia, because of congenital blepharoptosis or infantile strabismus. Three patients (12%) had a history of ptosis surgery and three other patients (12%) strabismus surgery. Thirteen patients (52%) used glasses for refractive errors.
Vision and refraction
Visual acuity measurements were performed in 24 patients; one patient was too young for reliable results. This patient without measurement showed no signs of visual impairment. Twenty-three patients had normal to near-normal corrected visual acuity. One patient who was visually impaired (Patient 19) had binocular best-corrected visual acuity of 0.3. Ophthalmologic examination revealed three ocular anomalies with a prevalence of more than 25%: treated and untreated amblyopia in eight patients (32%), myopia in 10 patients (40%), and astigmatism in 13 patients (52%).
External ocular features
Ophthalmologic examination revealed five features with a prevalence of more than 50% (major ocular features): epicanthic folds in 21 patients (84%), hypertelorism in 17 patients (68%), ptosis in 14 patients (56%), high upper eyelid crease in 16 patients (64%), and lower eyelid retraction in 15 patients (60%). In 10 patients (40%) ptosis was asymmetrical (Figure 1A) and in five of them ptosis was unilateral. Lower eyelid retraction, with inferior scleral show in the primary position of gaze (Figure 1B), was most prominent on the lateral side. Ocular features with a prevalence of more than 25% (minor ocular features) were: supra-normal (>5°) upslanting palpebral fissures in nine patients (36%) (Figure 1C), downslanting palpebral fissures in eight patients (32%), and incomplete eyelid closure, i.e. lagophthalmos, in seven patients (28%). Additional external ocular features were mild proptosis in one patient (Patient 17; Hertel exophthalmometry BE 20.5 mm), and one patient showed bilateral blepharitis (Patient 5).
Strabismus and ocular motility
Ophthalmic examinations revealed three minor ocular features (Table 2, category 3): strabismus in 10 patients (40%), absence of normal stereopsis in 11 patients (44%), and limited ocular motility in 10 patients (40%). Strabismus included exotropia in seven patients and esotropia in three patients. In the limited ocular motility group, nine had limited abduction (Figure 2), five had limited adduction, and two had limited elevation. None of the patients showed signs of congenital aberrant innervation of the extraocular muscles or pupils. There was no ocular retraction phenomenon on attempted adduction.
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