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CASE REPORT article
Front. Med.
Sec. Ophthalmology
Volume 12 - 2025 | doi: 10.3389/fmed.2025.1542548
This article is part of the Research TopicOptic Disc Anomalies and Associated DiseasesView all articles
A de novo NR2F1 mutation and clinical characteristics of Bosch-Boonstra-Schaaf optic atrophy syndrome in a Chinese patient
Provisionally accepted- 1Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
- 2Xijing Hospital, Air Force Medical University, Xi’an, Shaanxi Province, China
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Purpose To report the clinical characteristics, genetic findings, and treatment outcomes of a Chinese patient with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) caused by a mutation in the NR2F1 gene. Method A retrospective chart review was conducted, including the patient's medical history, brain magnetic resonance imaging (MRI), electroencephalogram (EEG), and brainstem auditory evoked potential (BAEP) test results. A detailed ophthalmic examination was recorded, including gaze following, fundus photography, flashelectroretinogram (f-ERG), and flash visual evoked potential (f-VEP). Genetic sequencing result from whole-exome sequencing (WES) was collected. Result The patient was a 5-year-old boy admitted to the hospital due to developmental delay and poor gaze following. Brain MRI revealed a cerebellar cyst, and EEG showed abnormal waveforms. BAEP indicated bilateral auditory conduction pathway impairment. Severe exotropia and optic nerve atrophy were observed in both eyes. f-ERG analysis revealed a moderate-to-severe decrease of dark-adapted (DA) amplitude in the right eye and a mild-to-moderate decrease in the left eye. WES identified a de novo heterozygous missense mutation (NM_005654.6: c.452T>C, p.Met151Thr) in the NR2F1 gene, which was determined to be the cause of the disease. The patient had been receiving neurotrophic treatment since the age of one, but no significant improvement was observed.Our report demonstrated the pathogenicity of a variant in NR2F1 gene, which previously classified as variant of uncertain significance or as a likely pathogenic variant, along with a detailed phenotypic characterization. The clinical feature and treatment outcomes described here may expand the spectrum of known NR2F1 variants and serve as a reference for understanding this rare disease.
Keywords: Bosch-Boonstra-Schaaf optic atrophy syndrome, developmental delay, NR2F1, Optic Atrophy, Whole-exome sequencing
Received: 10 Dec 2024; Accepted: 07 Apr 2025.
Copyright: © 2025 Tang, Jiang, Su, Tang, Xiang and Zhu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Jie Zhu, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China
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