Brittle cornea syndrome: A novel mutation.
Heliyon
; 10(11): e32506, 2024 Jun 15.
Article
de En
| MEDLINE
| ID: mdl-38961930
ABSTRACT
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 > Tp.P594L variation in the ZNF469 gene.Conclusions:
We reported a novel mutation in the ZNF469 gene (c.1781C > Tp.P594L) in a patient with brittle cornea syndrome from China, which enriched the spectrum of ZNF469 variants implicated in brittle cornea syndrome.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Langue:
En
Journal:
Heliyon
Année:
2024
Type de document:
Article
Pays d'affiliation:
Chine