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.