ArticleFrontiers in medicine2025
Case Report: A
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
6 authors.
Funding
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Abstract
Purpose: This study aimed 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, flash-electroretinogram (f-ERG), and flash visual evoked potential (f-VEP). Genetic sequencing results from whole-exome sequencing (WES) were collected. Result: The patient was an approximately 5-6 years 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 Conclusion: Our report demonstrated the pathogenicity of a variant in the NR2F1 gene, which was previously classified as a variant of uncertain significance or as a likely pathogenic variant, along with a detailed phenotypic characterization. The clinical features and treatment outcomes described here may expand the spectrum of known NR2F1 variants and serve as a reference for understanding this rare disease.
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