Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy

Koji Kitazawa, Koichi Wakimasu, Kanae Kayukawa, Manabu Sugimoto, Junko Nakai, Jayne S. Weiss, Morio Ueno, Chie Sotozono, Shigeru Kinoshita

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)554-559
Number of pages6
JournalCornea
Volume37
Issue number5
DOIs
Publication statusPublished - May 1 2018
Externally publishedYes

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Dimethylallyltranstransferase
Penetrating Keratoplasty
Pedigree
Mutation
Visual Acuity
Genes
Graft Rejection
Recurrence
Endothelial Cells
Cell Count
Transplants
Eye Diseases
Retrospective Studies
Outcome Assessment (Health Care)
Corneal Dystrophy, Crystalline, of Schnyder
DNA

ASJC Scopus subject areas

  • Ophthalmology

Cite this

Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. / Kitazawa, Koji; Wakimasu, Koichi; Kayukawa, Kanae; Sugimoto, Manabu; Nakai, Junko; Weiss, Jayne S.; Ueno, Morio; Sotozono, Chie; Kinoshita, Shigeru.

In: Cornea, Vol. 37, No. 5, 01.05.2018, p. 554-559.

Research output: Contribution to journalArticle

Kitazawa, K, Wakimasu, K, Kayukawa, K, Sugimoto, M, Nakai, J, Weiss, JS, Ueno, M, Sotozono, C & Kinoshita, S 2018, 'Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy', Cornea, vol. 37, no. 5, pp. 554-559. https://doi.org/10.1097/ICO.0000000000001511
Kitazawa, Koji ; Wakimasu, Koichi ; Kayukawa, Kanae ; Sugimoto, Manabu ; Nakai, Junko ; Weiss, Jayne S. ; Ueno, Morio ; Sotozono, Chie ; Kinoshita, Shigeru. / Long-Term Outcome After Penetrating Keratoplasty in a Pedigree With the G177E Mutation in the UBIAD1 Gene for Schnyder Corneal Dystrophy. In: Cornea. 2018 ; Vol. 37, No. 5. pp. 554-559.
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AU - Wakimasu, Koichi

AU - Kayukawa, Kanae

AU - Sugimoto, Manabu

AU - Nakai, Junko

AU - Weiss, Jayne S.

AU - Ueno, Morio

AU - Sotozono, Chie

AU - Kinoshita, Shigeru

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N2 - 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.

AB - 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.

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