A pediatric case of congenital stromal corneal dystrophy caused by the novel variant c.953del of the DCN gene.

ABSTRACT: We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to the parents regarding the recurrence rate. Whole exome sequencing was performed on her and her parents, and a novel de novo variant, NM_001920.5: c.953del, p.(Asn318Thrfs*10), in the DCN gene was identified in the patient.

SUBMITTER: Morikawa H 

PROVIDER: S-EPMC10039048 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature