AI Article Synopsis
- A 1-year-old girl was diagnosed with congenital stromal corneal dystrophy, characterized by diffuse opacity in both corneas.
- Genetic analysis was conducted to inform her parents about the chances of recurrence in future pregnancies.
- Whole exome sequencing revealed a new genetic variant in the DCN gene associated with her condition.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10039048 | PMC |
| http://dx.doi.org/10.1038/s41439-023-00239-8 | DOI Listing |
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