# Optic nerve and choroidal calcification in pediatric neurofibromatosis type 2

## TL;DR

A teenage boy with neurofibromatosis type 2 showed optic nerve and choroidal calcification, leading to vision loss, and a novel genetic variant was identified.

## Contribution

A novel missense variant in the NF2 gene is reported, contributing to the genetic understanding of neurofibromatosis type 2.

## Key findings

- The patient exhibited bilateral optic atrophy and calcifications in the optic nerve and choroid.
- A novel heterozygous missense variant in the NF2 gene (c.784C > G, p.Arg262Gly) was identified.
- External beam radiotherapy preserved vision in the unaffected eye for two years.

## Abstract

We describe a teenage boy with gradually progressive blurred vision in right eye. He could appreciate hand motions in the right eye and 20/20 vision in the left eye. Ophthalmic examination revealed bilateral optic atrophy with yellow-white peri-papillary lesion in the right eye. Computed Tomography (CT) brain and orbit showed choroidal, optic nerve and intracranial calcifications. The Magnetic resonance (MR) imaging showed the calcification selectively involved the optic nerve sheath with no abnormal hyperintensity or enhancement of the optic nerve substance, suggestive of a bilateral optic nerve sheath meningioma.

The work-up for metastatic calcification was normal. The molecular genetic testing revealed a heterozygous, missense variant in NF2 (c.784C > G, p. Arg262Gly) gene, which segregated in the proband's mother. This variant is not reported in the literature and adds to the genotype of Neurofibromatosis Type 2. To preserve the vision in left eye, the child underwent external beam radiotherapy (EBRT). The vision and fields in the left eye are stable after EBRT at a two-year follow-up. This case highlights the systematic approach to a case of optic atrophy in a child and identifying the rare etiology of optic nerve calcification with a report of novel variant in NF2 gene.