• Meng-Jie Dong, Zhong-Kun Yang, Ji Yang, Rui-Qin Guo, Yu-Yuan Xiao, and Hai Liu.
• Department of Ophthalmology, The Affiliated Hospital of Yunnan University, The Second People's Hospital of Yunnan Province, Kunming, China.
• Medicine (Baltimore). 2022 Jul 8; 101 (27): e29280e29280.

RationaleNeurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder. NF1 is a multisystemic disease and its pathogenesis involves mutations in the NF1 gene on chromosome 17q11.2 causing RAS overactivation to stimulate abnormal cell proliferation. In this article, a Chinese family with neurofibromatosis type 1 was reported and the relationship between the phenotype and gene mutation was analyzed.Patient ConcernsThe patient was a 9-year-old-male child diagnosed with right eye exophthalmos combined with right eye glioma, optic edema, and peripheral visual field defect. There were multiple cafe-au-lait spots in the whole body of the child. His mother had multiple cafe-au-lait spots, and the eye examination showed no abnormalities.DiagnosisThe proband was diagnosed with NF1 and a heterozygous frameshift mutation (c. 6641delG p. Arg2214Asnfs*30) in the NF1 gene was identified, and his mother also carried the same pathogenic mutation.InterventionsTo protect the vision of the right eye, he was treated with gamma knife radiotherapy.OutcomesAfter therapy, his fundus optic disc edema was decreased and the best corrected visual acuity of the right eye was increased.LessonsGene detection is helpful to diagnose the disease and guide the treatment. Gamma knife radiotherapy can preserve better neurological function.Copyright © 2022 the Author(s). Published by Wolters Kluwer Health, Inc.

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