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

Li Zeng,Xingtao Zhou,Jing Zhao,Yingjun Chen,Aruma Aruma,Jianmin Shang

doi:10.1186/s12886-019-1167-1

Abstract

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 in TGFBI.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 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.ConclusionsMultiple repeated PTKs were effective and safe in a long-term study of CD patients with an R124L mutation in TGFBI.

Highlights

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
All 10 eyes had significant diffuse corneal opacities, uncorrected visual acuity > 1.0, and best-corrected distance visual acuity (BCDVA) that could not be corrected
The gene test results revealed the presence of a heterozygous R124L mutation in Amount of PTKs and TEVAM During the follow-up period (19.60 ± 1.78 years), PTK treatments were conducted twice for three eyes, three times for six eyes, and four times for one eye

Summary

Introduction

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. Corneal dystrophy (CD) is a rare hereditary disease that severely damages visual acuity and is occasionally accompanied by symptoms such as pain, photophobia, and lachrymation, which severely affect patient quality of life. PTK is effective for treating CD opacities that redevelop postoperatively [16,17,18,19,20,21]. Follow-up of CD patients treated with multiple PTKs longer than 10 years has rarely been reported. This study reviewed five CD patients from the same family with the R124L mutation of the TGFBI gene; all patients underwent multiple PTK treatments over 20 years. We report the outcomes, including safety and efficacy of the procedures, in these patients

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Results

Conclusion