Koji Kitazawa1,2, Koichi Wakimasu2, Kanae Kayukawa2, Manabu Sugimoto3, Junko Nakai1, Jayne S Weiss4, Morio Ueno1, Chie Sotozono1, Shigeru Kinoshita2. 1. Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan. 2. Baptist Eye Institute, Kyoto, Japan. 3. Sugimoto Eye Clinic, Okayama, Japan. 4. Department of Ophthalmology, Pathology and Pharmacology, Louisiana State University Eye Center of Excellence, Louisiana State University Health Sciences Center, Louisiana State University, New Orleans, LA.
Abstract
PURPOSE: To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation. METHODS: This retrospective study involved 6 eyes of 5 patients who underwent penetrating keratoplasty for treatment of SCD. Postoperative surgical outcome measures included the analysis of best-corrected visual acuity (BCVA), corneal endothelial cell density, and the rates of corneal graft rejection and disease recurrence. Genomic DNA was extracted from whole peripheral blood samples obtained from each patient at the time of surgery, and mutation analysis of the UBIAD1 gene was then performed. RESULTS: All patients were found to have the same G177E mutation in the UBIAD1 gene. Mean patient age at the time of surgery was 61.5 ± 10.4 years (range, 49-72 yrs), and mean postoperative follow-up period was 8.8 ± 3.1 years (range, 3-11 yrs). Preoperatively, BCVA ranged from logarithm of the minimum angle of resolution (logMAR) 1.7 to logMAR 0.22; yet, it was found that BCVA had improved to logMAR 0.02 at 3 years postoperatively. Mean corneal endothelial cell density at 3, 5, and 8 years postoperatively was 2181, 1783, and 910 cells/mm, respectively. In all eyes, no disease recurrence or corneal graft rejection was observed during the follow-up period, and graft transparency was maintained. CONCLUSIONS: Our findings show that the corneal grafts in the reported SCD pedigree remained clear with no rejection or disease recurrence over the long term.
PURPOSE: To investigate the long-term surgical outcome after penetrating keratoplasty in 5 patients from 1 pedigree with Schnyder corneal dystrophy (SCD), resulting from the same UbiA prenyltransferase domain containing 1 (UBIAD1) mutation. METHODS: This retrospective study involved 6 eyes of 5 patients who underwent penetrating keratoplasty for treatment of SCD. Postoperative surgical outcome measures included the analysis of best-corrected visual acuity (BCVA), corneal endothelial cell density, and the rates of corneal graft rejection and disease recurrence. Genomic DNA was extracted from whole peripheral blood samples obtained from each patient at the time of surgery, and mutation analysis of the UBIAD1 gene was then performed. RESULTS: All patients were found to have the same G177E mutation in the UBIAD1 gene. Mean patient age at the time of surgery was 61.5 ± 10.4 years (range, 49-72 yrs), and mean postoperative follow-up period was 8.8 ± 3.1 years (range, 3-11 yrs). Preoperatively, BCVA ranged from logarithm of the minimum angle of resolution (logMAR) 1.7 to logMAR 0.22; yet, it was found that BCVA had improved to logMAR 0.02 at 3 years postoperatively. Mean corneal endothelial cell density at 3, 5, and 8 years postoperatively was 2181, 1783, and 910 cells/mm, respectively. In all eyes, no disease recurrence or corneal graft rejection was observed during the follow-up period, and graft transparency was maintained. CONCLUSIONS: Our findings show that the corneal grafts in the reported SCD pedigree remained clear with no rejection or disease recurrence over the long term.
Authors: Juan Cruz Almada; Ana Bortolotti; Jean Marie Ruysschaert; Diego de Mendoza; María Eugenia Inda; Larisa Estefanía Cybulski Journal: Biomolecules Date: 2021-06-25