Ophthalmic Manifestation in Neurofibromatosis Type 2

Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and nerve sheath meningiomas. Moreover, edema, optical atrophy, motility disorders, pupil lid dysfunction, neurotrophic keratitis can be observed as indirect signs. An observational study was conducted with the aim to collect clinical data describe most frequent NF2 ocular manifestations. Fourteen patients affected by NF2, according Manchester criteria, were enrolled. All underwent complete ophthalmologic orthoptic evaluation spectral domain coherence tomography. present in all patients. The slit lamp of anterior segment highlighted cataracts five patients, two corneal leukoma pannus one patient. Fundus oculi OCT identified membranes four vitreoretinal tufts three edema patient, hamartoma different types disorders seven This descriptive rare disease poor previous literature. Clinical are shown, emphasizing role NF2-specific ophthalmological findings help establish an early diagnosis.