A Novel Decorin Gene Mutation in Congenital Hereditary Stromal Dystrophy: A Korean Family

• 발행기관: 대한안과학회
• 저자명: Jung Hye Lee Chang-Seok Ki Eui-Sang Chung Tae-Young Chung
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.26 No.4, 301~305쪽, 전체 5쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2012.08.30

영문 초록

A 43-year-old man developed decreased vision in the right eye that had persisted for seven years. Under slit lamp examination, corneal clouding was noted with normal endothelium and ocular structure. From the clinical evidence, we suspected that the patient had congenital hereditary stromal dystrophy (CHSD). He and his family underwent a genetic analysis. Penetrating keratoplasty was conducted, and the corneal button was investigated for histopathologic confirmation via both light and electron microscopy. The histopathologic results revealed mildly loosened stromal structures, which exhibited an almost normal arrangement and differed slightly from the previous findings of CHSD cases. With regard to the genetic aspects, the patient and his mother harbored a novel point mutation of the decorin gene. This genetic mutation is also distinct from previously described deletion mutations of the decorin gene. This case involved delayed penetration of mild clinical symptoms with the histological feature of a loosened fiber arrangement in the corneal stroma. We concluded that this condition was a mild form of CHSD. However, from another perspective, this case could be considered as “decorin gene-associated corneal dystrophy,” which is distinct from CHSD. Further evaluation will be required for appropriate clinical, histopathologic and genetic approaches for such cases.

목차

Case Report

Discussion

Conflict of Interest

References

키워드

Decorin Hereditary corneal dystrophy Point mutation