Abstract

P 018

Bilateral optic pathway glioma associated with unknown neurofibromatosis type 1 in a 14-month-old boy

Kuhli-Hattenbach C., Sinangin Y., Lüchtenberg M.
Department of Ophthalmology, Johann Wolfgang Goethe University, Frankfurt

Objective: One of the most significant complications of neurofibromatosis type 1 is the development of optic pathway gliomas, thought to be low-grade pilocytic astrocytomas. Although these tumors are considered benign, they can result in significant visual impairment. We report on a 14-months old boy with a massive bilateral optic glioma associated with unknown neurofibromatosis type 1.
Methods: A 14-months old boy was presented in our department with unilateral eyelid swelling and epiphora. His medical and family history was unremarkable and he underwent a thorough ophthalmic examination including visual acuity, anterior segment and funduscopic examination, and A- and B-scan ultrasonography.
Results: Clinical examination revealed unilateral exophthalmos and blindness of the left eye (visual acuity OD: 20/200). Moreover, we found exotropia OS, optic disc swelling and choroidal folds and ultrasonography revealed an enlarged optic nerve. Radiologic studies uncovered characteristic extensive changes of bilateral optic pathway glioma involving both optic nerves, the optic chiasma and both optic tracts. Further pediatric examination revealed neurofibromas and café-au-lait-spots and diagnosis of neurofibromatosis type 1 was made. The patient underwent conservative treatment with chemotherapy and the tumor showed a radiological reduction in size. In the further course the visual acuity of the right eye remained stable.
Conclusions: As optic pathway gliomas can result in significant visual impairment early diagnosis is very important. These patients are most likely to present with complaints of decreased visual acuity, eyelid swelling, exophthalmos or visual field disturbances. Therefore the ophthalmologist plays an important role in the early diagnosis of optic pathway gliomas.

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