小型综述:2型颗粒性角膜营养不良的临床特征和治疗。

Myung Soo Chang, Ikhyun Jun, Eung Kweon Kim
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引用次数: 0

摘要

2型颗粒状角膜营养不良(GCD2)是一种常染色体显性角膜基质营养不良,由转化生长因子β诱导(TGFBI)基因p.a g124his突变引起。其特征是中央前间质中有界限清晰的颗粒状混浊物,随着疾病进展,沉积物挤压导致角膜上皮侵蚀导致眼部疼痛。弥漫性角膜薄雾出现较晚,导致视力下降。GCD2在包括韩国在内的东亚地区的发病率较高。纯合子患者从小就表现出严重的表型,而杂合子表型在患者之间存在差异,这取决于几种类型的复合杂合子TGFBI突变。在初期,使用人工泪液、抗生素眼药水、绷带隐形眼镜等保守疗法来治疗角膜糜烂。根据基质沉积物的深度和范围,采用不同的手术方法。光疗性角膜切除术可去除前混浊,在适用性和可重复性方面具有优势。对于更深的病变,可以使用深前板层角膜移植术,因为内皮层并不总是受到影响。由于不同的复发定义和随访时间,这些治疗后的复发率在不同的研究中有很大的差异。在接受角膜激光视力矫正手术(如光屈光性角膜切除术、LASEK或LASIK包括SMILE手术)的患者中,角膜混浊迅速加剧,视力严重恶化。有必要进一步研究新的GCD2治疗方法。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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.

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来源期刊
Korean Journal of Ophthalmology : KJO
Korean Journal of Ophthalmology : KJO Medicine-Ophthalmology
CiteScore
2.40
自引率
0.00%
发文量
84
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