Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2

• 영문명: Mini-Review: Clinical Features and Management of Granular Corneal Dystrophy Type 2
• 발행기관: 대한안과학회
• 저자명: Myung Soo Chang Ikhyun Jun Eung Kweon Kim
• 간행물 정보: 『The Korean Journal of Ophthalmology』Vol.37 No.4, 340~347쪽, 전체 8쪽
• 주제분류: 의약학 > 의학일반
• 파일형태: PDF
• 발행일자: 2023.08.31

영문 초록

Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant corneal stromal dystrophy that is caused by p.Arg124His mutation of transforming growth factor β induced (TGFBI) gene. It is characterized by well demarcated granular shaped opacities in central anterior stroma and as the disease progresses, extrusion of the deposits results in ocular pain due to corneal epithelial erosion. Also, diffuse corneal haze which appears late, causes decrease in visual acuity. The prevalence of GCD2 is high in East Asia including Korea. Homozygous patients show a severe phenotype from an early age, and the heterozygote phenotype varies among patients, depending on several types of compound heterozygous TGFBI mutations. In the initial stage, conservative treatments such as artificial tears, antibiotic eye drops, and bandage contact lenses are used to treat corneal erosion. Different surgical methods are used depending on the depth and extent of the stromal deposits. Phototherapeutic keratectomy removes anterior opacities and is advantageous in terms of its applicability and repeatability. For deeper lesions, deep anterior lamellar keratoplasty can be used as the endothelial layer is not always affected. Recurrence following these treatments are reported within a wide range of rates in different studies due to varying definition of recurrence and follow-up period. In patients who have undergone corneal laser vision-correction surgeries such as photorefractive keratectomy, LASEK, or LASIK including SMILE surgery, corneal opacity exacerbates rapidly with severe deterioration of visual acuity. Further investigations on new treatments of GCD2 are necessary.

목차

Introduction

Genetics, Epidemiology, and Pathophysiology

Clinical Features

Management

Future Perspectives

Conclusion

References

키워드

Corneal dystrophy Avellino type Hereditary corneal dystrophies Granular corneal dystrophy type 2