A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

BACKGROUND: variant in an NF1 patient with bilateral optic atrophy. METHODS: Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing (NGS). RESULTS: or the mitochondrial DNA were identified. CONCLUSIONS: variants and bilateral optic atrophy remains unclear, further investigations are required.