Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study

Multiple phototherapeutic keratectomy treatments in a Chinese pedigree with corneal dystrophy and an R124L mutation: a 20-year observational study
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对患有 R124L 突变的角膜营养不良的中国家系进行多次光疗性角膜切除术治疗:一项为期 20 年的观察性研究

DOI:
10.1186/s12886-019-1167-1
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发表时间:
2019-08-22
期刊:
影响因子:
2
通讯作者:
Zhou, Xingtao
Zhou, Xingtao
中科院分区:
医学4区
文献类型:
--
作者:
Zeng, Li;Zhao, Jing;Zhou, Xingtao

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BackgroundTo 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 inTGFBI.MethodsThis 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.ResultsGene testing revealed an R124L mutation inTGFBI. 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.ConclusionsMultiple repeated PTKs were effective and safe in a long-term study of CD patients with an R124L mutation inTGFBI.