Page 56 - Clinical variability in Noonan syndrome with emphasison ear and eye
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CHAPTER 3
Figure 5. Fundus photography and spectral-domain optical coherence tomography (SD OCT) of a patient diagnosed as bilateral optic nerve hypoplasia (ONH), with bilateral poor vision since infancy, infantile sensory nystagmus, negative pattern-reversal visual-evoked potentials, weak flash visual-evoked potentials, red-green color vision defect, strabismus, high myopia and astigmatism (Patient 19, Table 1). (A, C) Fundus images show relatively small optic discs with central cups, and (A) extorsion of the right fundus image due to excyclotropia. (B, D) SD OCT shows deep optic cups, with a horizontal disc diameter, defined as the distance between the edges of retinal pigment epithelium, of (B) RE 1090 μm and (D) LE 1200 μm. Horizontal cup diameter was RE 480 μm and LE 600 μm. The values of disc size and cup size fit in the range of patients with ONH, although cup depth of more than 400 μm is rather unusual for ONH (38).
We report several ocular manifestations of NS that to date are uncommonly reported in the literature. These include asymmetry of ptosis, high upper eyelid crease, lower eyelid retraction (18), upward-slanting palpebral fissures, incomplete eyelid closure (lagophthalmos), limited ocular motility (26), prominent corneal nerves (18,19), and posterior embryotoxon (19). Recently, a NS patient with Axenfeld anomaly and PTPN11
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