Descemet membrane endothelial keratoplasty in eyes with COL8A2-associated corneal dystrophy

Daliya Dzhaber; Michael J. Fliotsos; Mya Abousy; Swarupa Kancherla; Sepideh Siadati; Charles G. Eberhart; John D. Gottsch; Allen O. Eghrari

American Journal of Ophthalmology Case Reports (Jun 2022)

Descemet membrane endothelial keratoplasty in eyes with COL8A2-associated corneal dystrophy

Daliya Dzhaber,
Michael J. Fliotsos,
Mya Abousy,
Swarupa Kancherla,
Sepideh Siadati,
Charles G. Eberhart,
John D. Gottsch,
Allen O. Eghrari

Affiliations

Daliya Dzhaber: Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
Michael J. Fliotsos: Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
Mya Abousy: Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
Swarupa Kancherla: Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
Sepideh Siadati: Ophthalmic Pathology Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
Charles G. Eberhart: Ophthalmic Pathology Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
John D. Gottsch: Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA
Allen O. Eghrari: Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA; Corresponding author. MPH 1800 Orleans Street Woods 375, Baltimore, Maryland, 21287, USA.

Journal volume & issue: Vol. 26
p. 101544

Abstract

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Purpose: The p.(Leu450Trp) COL8A2 mutation, associated with an early-onset corneal endothelial dystrophy, can result in bullous keratopathy within the first few decades of life. People with this condition frequently experience anterior corneal changes in keratometry as the disease worsens, which may potentially affect refractive error after endothelial keratoplasty. We describe outcomes of the first cases of Descemet Membrane Endothelial Keratoplasty (DMEK) for patients with known mutations in this gene. Observations: Four eyes from two patients with COL8A2-associated corneal dystrophy underwent DMEK for this condition at a tertiary academic center. Preoperative and postoperative Scheimpflug imaging and manifest refraction was conducted. Mean central corneal thickness decreased from 713 μm preoperatively to 529 μm at one month. Despite long-standing corneal haze, all eyes reached between 20/20 and 20/30 best corrected visual acuity, and minimum postoperative central corneal thickness reached 482, 479, 479 and 533 μm. Refractive changes frequently occurred during the first postoperative year, with 3.6 D, 3.3 D, 3 D, and 0.8 D shifts in spherical equivalent taking place within this time period in the four eyes. Conclusions and Importance: In two patients with the p.(Leu450Trp) mutation in COL8A2 who underwent DMEK, resolution of corneal edema resulted in centrally thin corneas and refractive shifts postoperatively. Despite chronic edema, excellent visual acuity was achieved in all eyes.

Published in American Journal of Ophthalmology Case Reports

ISSN: 2451-9936 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Medicine: Ophthalmology
Website: http://www.journals.elsevier.com/american-journal-of-ophthalmology-case-reports/

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