Page 46 - Clinical variability in Noonan syndrome with emphasison ear and eye

CHAPTER 3
ophthalmic headrest with an adjustable chin rest and forehead strap to ensure stable head position. Photographs were taken with the eyes in the primary position of gaze, with fixation of the camera lens at three meters. The indices were based upon Stengel- Rutkowski and coworkers (23). Finally, Hertel exophthalmometry (Oculus Optikgeräte GmbH, Wetzlar, Germany) was performed.
The orthoptic examination included examination of ocular alignment with cover tests, with the patient fixation on an accommodative target at near (30 cm) and distance (2.5 m and 6 m). Ocular motility was tested by checking the ocular ductions in the cardinal directions of gaze. Binocular vision tests were performed at 30 cm (prism test, Titmus stereotest), at 2.5 m (Bagolini test) and 6 m (Worth four dot test).
Ocular examinations were completed with testing of pupillary reactions, slit-lamp biomicroscopy (Haag-Streit AG, Bern, Switzerland), and measurement of intraocular pressure using non-contact tonometry (children) and applanation tonometry (adults). Ophthalmoscopy (indirect and direct) was performed after mydriasis. For children, the refraction was performed under cycloplegia after topical administration of cyclopentolate 1%. In a selected case we performed digital color fundus photography (Topcon, Tokyo, Japan) and spectral-domain optical coherence tomography (SD OCT; Heidelberg Engineering, Heidelberg, Germany). Ocular features of NS were defined as major ocular features (prevalence > 50%), minor ocular features (prevalence 25-50%), and additional ocular features (prevalence < 25%).
Genetic Analysis
Genetic analyses were performed in 23 patients by Sanger sequence analysis in routine DNA diagnostic setting for mutations in the coding regions of the genes known for NS. For primer sequences and PCR conditions we refer to previous studies from our medical center (24). Descriptive statistics with percentages are used for analyzing the results. We compared the ocular manifestations of our 25 patients with other cohort studies of NS (18,19,25,26).
Results
The individual ocular manifestations and genetic findings of the 25 patients with NS are summarized in Table 1. The ocular features of the present cohort are compared with other cohort studies in Table 2, which shows differences in the prevalence of ocular features and new findings.
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