Uncommon Ocular Manifestations of Neurofibromatosis: Case Report and Review

ABSTRACT

PURPOSE: To report and review several cases of uncommon ocular manifestations in neurofibromatosis patients. CASE SUMMARY: A 19-year-old woman diagnosed with type 2 neurofibromatosis visited our hospital with amblyopia of the right eye and mild visual disturbance of the left eye. Best corrected visual acuity was 20/250 in the right eye, 20/25 in the left eye and relative afferent pupillary defect in the right eye was observed. Fundus examination of both eyes showed papilledema. Magnetic resonance imaging showed schwannoma from the optic nerve to the optic chiasm. A 28-year-old woman diagnosed with type 2 neurofibromatosis visited our hospital with amblyopia of the right eye. Best corrected visual acuity was finger count in the right eye, 20/20 in the left eye and relative afferent pupillary defect in the right eye was observed. Fundus examination of the right eye showed a slightly elevated lesion at the macula, as well as dragged optic disc and retinal vessels to the macula. An 8-year-old girl diagnosed with type 1 neurofibromatosis visited our hospital with enophthalmos and strabismus of the left eye. On exophthalmometry, enophthalmos in the left eye was found; measurements were 15.0 mm in the right eye and 13.0 mm in the left eye. Three-dimensional computed tomography revealed sphenoidal hypoplasia and a left lateral orbital wall defect. CONCLUSIONS: The authors of the present study report on neurofibromatosis patients who had an uncommon ocular manifestation. Neurofibromatosis can represent various ocular manifestations but reports of compressive optic neuropathy, dragged disc syndrome and sphenoidal hypoplasia are rare.