Page 45 - Clinical variability in Noonan syndrome with emphasison ear and eye

OCULAR MANIFESTATIONS OF NOONAN SYNDROME: A PROSPECTIVE STUDY OF 25 PATIENTS
and complete ophthalmologic examination in a detailed study protocol by a team of the Institute of Ophthalmology. The same team examined all the patients. Seventeen patients were male and eight were female. They were clinically diagnosed by the criteria of van der Burgt et al (20), including characteristic features in 6 categories (facial, cardiac, height, chest wall, family history, and other), with two alternatives (A, B) in each category. Definite NS: 1A plus one of 2A-6A or two of 2B-6B; 1B plus two of 2A-6A or three of 2B-6B. Age at ocular examination ranged from eight months to 25 years of age, with a mean age of 14 years. The cohort included 23 Caucasians, one Turkish and one Hindustani. Two brother and sister pairs were included.
The ophthalmologic study protocol included a detailed ocular history and measurements in six ophthalmic categories: (1) vision and refraction, using subjective and objective methods; (2) external ocular features, including anthropometry and photography; (3) ocular position and motility, including full orthoptic testing; (4) anterior segment, including slit-lamp biomicroscopy; (5) posterior segment, including ophthalmoscopy; and (6) intraocular pressure, including tonometry. The study adhered to the tenets of the Declaration of Helsinki, and local ethics committee approval was obtained. All participants or their parents gave fully informed consent for performing the study and for publication of data, tables and photography of eye-strips.
Ocular Examination
A full ophthalmologic examination was performed. Best-corrected visual acuity (BCVA) was assessed with Snellen optotypes at six meters after subjective and objective refraction measurements, including keratometry. Refractive errors were defined to be clinically significant if the spherical equivalent of ametropia (SEA) was 1.00 or more diopters (D). They were classified as hyperopia (positive SEA; absolute value of SEA ≥ 1.00 D) or myopia (negative SEA; absolute value of SEA ≥ 1.00 D), and astigmatism (absolute value of astigmatism ≥ 1.00 D). Furthermore, Amsler grid tests and Donders tests were performed.
Subjective scoring of the external ocular features was performed according to the methods of Farkas (21), and for the definition of ptosis we used the criteria of Small and coworkers (22). Levator function tests were performed with a ruler. Anthropometry was used for three objective measurements: the inner canthal distance (En-En), the outer canthal distance (Ex-Ex), and the interpupillary distance (PD). Photogrammetric evaluation was done to complete the physical measurements and facial findings. In anthropometry and photogrammetry standard landmarks were used for measuring distances and angles based upon the literature of Farkas (21). For facial photography (Olympus Co., Tokyo, Japan), patients were positioned in a standard
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