Acquired retinal myelinated fibers in a 11-year-old girl with Neurofibromatosis Type 1 (NF1).

Author: Konstantina Togka (Greece)

Co-authors: Margarita Papadopoulou, Vasileios Nikolaos Pililis, Agathi S. Kouri

Purpose

To present the rare case of acquired myelinated retinal nerve fibers (MRNF) in a 11-year-old girl with gliomas of the optic pathway due to NF1.

Setting/Venue

Ophthalmology Department, P.& A. Kyriakou Children's Hospital, Athens, Greece.

Methods

A girl was diagnosed with Neurofibromatosis Type 1 (NF1) at the age of 2.5 years. NF1 lesions were detected on the Magnetic Resonance Imaging (MRI) of the head and orbits and included hamartomas of the cerebellum, midbrain and basal ganglia, as well as gliomas of the optic chiasm and both optic nerves. At the age of 7 years, she was referred to our department, due to reduction of visual acuity in both eyes. On examination, visual acuity was 0.8 in the right eye and 0.5 in the left eye on LogMAR. On fundoscopy, bilateral optic disc pallor was noticed. The patient was commenced on chemotherapy with Vincristine and Carboplatin for a period of 12 months. During that time ophthalmological evaluation was conducted in our department every 3 months, whereas MRI of the head and orbits was performed every 6 months. After completion of the chemotherapy the patient continued to be followed up regularly. At the age of 11 years, fundoscopy revealed myelinated retinal nerve fibers at the superior rim of the right optic nerve, finding which had never been reported in the previous exams. Optical Coherence Tomography (OCT) images were obtained for further monitoring.

Results

Optical Coherence Tomography of the optic nerve showed increased thickness and hyper-reflectivity of the peripapillary retinal nerve fiber layer associated with the myelinization process. The patient’s visual acuity was preserved throughout the follow-up period and remained the same as prior to the presentation of the myelinated nerve fibers (0.8 LogMAR in the right eye and 0.5 LogMAR in the left eye). Furthermore, the MRI did not show any signs of progression or other new findings.

Conlusions

Acquired myelinated retinal nerve fibers is a rare finding which can be present in cases of Neurofibromatosis Type 1.

Financial Disclosure

We do not have any financial disclosures.

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