Neurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel

• Tác giả: Dany Akiki, Souha Allam, Jamal Bleik, Andre Megarbane, Karim Sleiman
• Ngôn ngữ: eng
• Ký hiệu phân loại: 796.3346 Ball games
• Thông tin xuất bản: England : Ophthalmic genetics , 2025
• Bộ sưu tập: NCBI
• ID: 700191

Tóm tắt

BACKGROUND: Neurofibromatosis type-2-related schwannomatosis ( CASE PRESENTATION: We report a 21-month-old female patient who presented for left eye deviation. Upon examination, intermittent exotropia and a fundus mass were detected. Wide field fundus examination revealed the presence of a combined hamartoma involving the optic nerve and retina. This finding was supported by MRI highlighting the lesion's characteristics. The patient's father and other relatives on the paternal side displayed symptoms of CONCLUSION: This case underscores the need to consider