Ocular adnexa and anterior segment
Lids and periorbital region: Plexiform neurofibroma was diagnosed in 84.8% of cases (i.e. 28 out of 33 patients), of which, the majority (11 out of 28) involved the upper eyelid. This was associated with drooping of the upper lid (ptosis) and s-shaped deformity of the lid margin. In 8 of these 11 cases (72.7%), the affected eye showed some degree of amblyopia at presentation. Other adnexal manifestations included the presence of cutaneous and subcutaneous neurofibroma nodules on the face, head and neck, as well as plexiform neurofibromas of the orbit, causing proptosis in 4 cases (Figure 5 a & b). In one of these cases, the orbital swelling was accompanied by intracranial extension as a result of a defect in the lesser wing of the sphenoid (sphenoid dysplasia), shown on computerized tomography (CT) scan of the brain and orbit (same case described above, Figure 5f). Proptosis was associated with varying degrees of lagophthalmos and limitation of ocular motility. However, the lagophthalmos was not associated with corneal exposure or impaired Bell’s reflex in either case.
Conjunctiva: Conjunctival changes were observed in 3 cases, comprising neurofibroma in 1 patient (2.9%), brownish discolouration in another case and ciliary injection in the third case.
Cornea: Prominent corneal nerves were documented in only 2 cases (5.8%), and a corneal opacity (adherent leucoma) was recorded in one patient. One child had ipsilateral glaucoma, in the eye with plexiform neurofibroma of the lid.
Iris (Lisch nodules): Iris harmatomas (Lisch nodules), shown in Figure 6a and b, were found on slit lamp examination, in 22 out of 29 cases (75.9%) constituting the second most common ocular sign. Lisch nodules were documented in 2 children, aged 5 years. One patient had segmental iris atrophy.
Pupils: Pupillary examination revealed normal shaped pupils in most cases. However, pupillary reactions were abnormal, showing afferent pupillary defects, in 6 cases. Ectropion uvea was not documented in any case.
Lens: Cataract was present in two cases, although these were not the posterior subcapsular type, often associated with NF type 2.