Dzhaber Daliya, Fliotsos Michael J, Abousy Mya, Kancherla Swarupa, Siadati Sepideh, Eberhart Charles G, Gottsch John D, Eghrari Allen O
Cornea, Cataract, and External Diseases Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA.
Ophthalmic Pathology Division, The Johns Hopkins University School of Medicine, The Wilmer Eye Institute. 600 N Wolfe Street, Baltimore, MD, USA.
Am J Ophthalmol Case Rep. 2022 Apr 27;26:101544. doi: 10.1016/j.ajoc.2022.101544. eCollection 2022 Jun.
The p.(Leu450Trp) 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.
Four eyes from two patients with -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.
In two patients with the p.(Leu450Trp) mutation in 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.
p.(Leu450Trp)突变与早发性角膜内皮营养不良相关，可在生命的最初几十年内导致大疱性角膜病变。随着疾病进展，患有这种疾病的人在角膜曲率测量中经常出现角膜前部变化，这可能会在内皮角膜移植术后影响屈光不正。我们描述了首例针对该基因突变患者的Descemet膜内皮角膜移植术（DMEK）的结果。
在一家三级学术中心，两名患有相关角膜营养不良的患者的四只眼睛接受了DMEK治疗。进行了术前和术后的Scheimpflug成像及验光。平均中央角膜厚度从术前的713μm降至术后1个月时的529μm。尽管角膜长期存在 haze，但所有眼睛的最佳矫正视力均达到20/20至20/30，术后中央角膜最小厚度达到482、479、479和533μm。屈光变化在术后第一年频繁发生，四只眼睛在此期间的等效球镜度数分别有3.6D、3.3D、3D和0.8D的变化。
两名携带p.(Leu450Trp)突变的患者接受了DMEK治疗，角膜水肿消退导致术后角膜中央变薄和屈光改变。尽管存在慢性水肿，但所有眼睛均获得了良好的视力。
