Heliyon · 2024
Brittle cornea syndrome: A novel mutation.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Geng Xingchen, Zhu Lei, Li Jingguo, Li Zhanrong
Аннотация
PURPOSE: To report the clinical, tomographic, histopathological and genetic findings of a patient with brittle cornea syndrome and a novel mutation in the ZNF469 gene likely implicated in the development of this disorder.
METHODS: A 64-year-old man presented with a two-year history of worsening vision in both eyes. The patient and his son were examined by imaging and genetic analysis.
RESULTS: The patient exhibited persistent ocular irritation, decreased vision, corneal epithelial defects and corneal stromal opacity. Confocal microscopy revealed that the anterior corneal stroma had a large amount of highly reflective and striated tissue. However, his son had no symptoms. Genetic analysis identified a heterozygous c.1781C > T:p.P594L variation in the ZNF469 gene.
CONCLUSIONS: We reported a novel mutation in the ZNF469 gene (c.1781C > T:p.P594L) in a patient with brittle cornea syndrome from China, which enriched the spectrum of ZNF469 variants implicated in brittle cornea syndrome.
METHODS: A 64-year-old man presented with a two-year history of worsening vision in both eyes. The patient and his son were examined by imaging and genetic analysis.
RESULTS: The patient exhibited persistent ocular irritation, decreased vision, corneal epithelial defects and corneal stromal opacity. Confocal microscopy revealed that the anterior corneal stroma had a large amount of highly reflective and striated tissue. However, his son had no symptoms. Genetic analysis identified a heterozygous c.1781C > T:p.P594L variation in the ZNF469 gene.
CONCLUSIONS: We reported a novel mutation in the ZNF469 gene (c.1781C > T:p.P594L) in a patient with brittle cornea syndrome from China, which enriched the spectrum of ZNF469 variants implicated in brittle cornea syndrome.