Zeng Li, Zhao Jing, Chen Yingjun, Shang Jianmin, Aruma Aruma, Zhou Xingtao
Department of Ophthalmology, Eye and ENT Hospital of Fudan University, Shanghai, China.
NHC Key Laboratory of Myopia (Fudan University), Shanghai, China.
BMC Ophthalmol. 2019 Aug 22;19(1):191. doi: 10.1186/s12886-019-1167-1.
To investigate the efficacy and safety of repeated phototherapeutic keratectomies (PTKs) during long-term treatment for corneal dystrophy (CD) in a Chinese pedigree carrying the R124L mutation in TGFBI.
This was a retrospective review of 20-year medical and genetic records involving five CD patients (10 eyes) from one pedigree. During this period, PTK was conducted for an eye when best-corrected distance visual acuity (BCDVA) reached > 1.0 (LogMAR), due to either primary or recurrent opacities in the cornea. All PTKs were performed by 193-nm excimer laser with or without creation of epithelial flaps. For each eye, routine measurements were conducted for the number of PTKs during follow-up, mean time to recurrence, and BCDVA pre- and post- every PTK (measurements within 3 months from each PTK). Corneal thicknesses measured after the last PTK and at the last visit were analyzed, and subjective satisfaction was assessed.
Gene testing revealed an R124L mutation in TGFBI. During 19.60 ± 1.78 years of follow-up, PTKs were conducted twice for three eyes, three times for six eyes, and four times for one eye. After each PTK, effective visual acuity was maintained for 3.60 ± 1.12 years before significant recurrence. BCDVA improved significantly postoperatively than preoperatively for the first PTK for each eye (p < 0.001), as well as the second (p < 0.001) and third one (p < 0.001). After the last PTK and at the final visit, the thinnest corneal thickness was 371.50 ± 56.47 μm and 358.40 ± 101.11 μm, respectively. The average subjective satisfaction score was 8.60 ± 0.89.
Multiple repeated PTKs were effective and safe in a long-term study of CD patients with an R124L mutation in TGFBI.
在中国一个携带TGFBI基因R124L突变的家系中，研究重复光治疗性角膜切削术（PTK）在角膜营养不良（CD）长期治疗中的疗效和安全性。
这是一项对来自一个家系的5例CD患者（10只眼）的20年医学和基因记录的回顾性研究。在此期间，当最佳矫正远视力（BCDVA）因角膜原发性或复发性混浊达到>1.0（LogMAR）时，对一只眼进行PTK。所有PTK均使用193纳米准分子激光进行，有或没有制作上皮瓣。对每只眼，常规测量随访期间的PTK次数、复发平均时间以及每次PTK前后的BCDVA（每次PTK后3个月内的测量值）。分析最后一次PTK后和最后一次就诊时测量的角膜厚度，并评估主观满意度。
基因检测显示TGFBI基因存在R124L突变。在19.60±1.78年的随访期间，3只眼进行了2次PTK，6只眼进行了3次PTK，1只眼进行了4次PTK。每次PTK后，在显著复发前有效视力维持3.60±1.12年。每只眼第一次PTK术后BCDVA较术前显著改善（P<0.001），第二次（P<0.001）和第三次（P<0.001）也是如此。最后一次PTK后和最后一次就诊时，最薄角膜厚度分别为371.50±56.47μm和358.40±101.11μm。平均主观满意度评分为8.60±0.89。
在对携带TGFBI基因R124L突变的CD患者的长期研究中，多次重复PTK是有效且安全的。
