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

CONCLUSIONS: A patient with NF1 without OPGs developed bilateral optic atrophy and carried a novel de novo stop-gain variant of NF1. Although the relationship between NF1 variants and bilateral optic atrophy remains unclear, further investigations are required.PMID:37599594 | DOI:10.1080/13816810.2023.2245464

Source: Ophthalmic Genetics - August 21, 2023 Category: Opthalmology Authors: Naoko Fukunaga Takaaki Hayashi Yuki Yamada Kei Mizobuchi Arihito Ohta Tadashi Nakano Source Type: research