未经证实:70%的Fuchs内皮角膜营养不良(FECD)病例是由转录因子4基因(TCF4)的内含子三核苷酸重复扩增引起的。这项研究的目的是表征有(RE)和没有三核苷酸重复扩增(RE-)的FECD患者的角膜基底下神经丛和角膜雾霾,并评估这些参数与疾病严重程度的相关性。
未经评估:横截面,单中心研究。
UNASSIGNED:该研究包括29名受试者的52只眼,其FECD严重程度的Krachmer等级从1到6。29名受试者中有15名携带扩展的TCF4等位基因长度≥40个胞嘧啶-胸腺嘧啶-鸟嘌呤重复序列(RE)。
UNASSIGNED:体内共聚焦显微镜评估角膜神经纤维长度(CNFL),角膜神经分支密度,角膜神经纤维密度(CNFD),和前角膜基质反向散射(haze);Scheimpflug断层摄影术密度测定法测量前的haze,中央,和后角膜层。
未经评估:使用共聚焦显微镜,我们在RE+受试者的眼睛中检测到FECD严重程度与CNFL和CNFD之间呈负相关(分别为Spearmanρ=-0.45,P=0.029和ρ=-0.62,P=0.0015),但在RE-受试者的眼睛中没有。此外,在RE+受试者中,CNFD与扩增等位基因的重复长度呈负相关(Spearmanρ=-0.42,P=0.038)。我们发现RE和RE-组的前基质背向散射与严重程度之间呈正相关(分别为ρ=0.60,P=0.0023和ρ=0.44,P=0.024)。前部,中央,和后Scheimpflug密度测定测量值也与RE组和RE-组的严重程度呈正相关(分别为P=5.5×10-5、2.5×10-4和2.9×10-4,在合并分析中调整扩展状态后。然而,对于患有严重FECD(克拉赫默5级和6级)的患者,RE+组的后路光密度测量值高于RE-组(P<0.05)。
UNASSIGNED:FECD角膜神经丢失支持将TCF4三核苷酸重复扩增障碍分类为神经退行性疾病。前面的阴霾,中央,后角膜与严重程度相关,无论基因型。角膜神经和角膜雾霾的定量评估可能有助于评估和监测RE患者的FECD疾病严重程度。
UNASSIGNED: Seventy percent of Fuchs\' endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the transcription factor 4 gene (TCF4). The objective of this study was to characterize the corneal subbasal nerve plexus and corneal haze in patients with FECD with (RE+) and without the trinucleotide repeat expansion (RE-) and to assess the correlation of these parameters with disease severity.
UNASSIGNED: Cross-sectional, single-center study.
UNASSIGNED: Fifty-two eyes of 29 subjects with a modified Krachmer grade of FECD severity from 1 to 6 were included in the study. Fifteen of the 29 subjects carried an expanded TCF4 allele length of ≥ 40 cytosine-thymine-guanine repeats (RE+).
UNASSIGNED: In vivo confocal microscopy assessments of corneal nerve fiber length (CNFL), corneal nerve branch density, corneal nerve fiber density (CNFD), and anterior corneal stromal backscatter (haze);
Scheimpflug tomography densitometry measurements of haze in anterior, central, and posterior corneal layers.
UNASSIGNED: Using confocal microscopy, we detected a negative correlation between FECD severity and both CNFL and CNFD in the eyes of RE+ subjects (Spearman ρ = -0.45, P = 0.029 and ρ = -0.62, P = 0.0015, respectively) but not in the eyes of RE- subjects. Additionally, CNFD negatively correlated with the repeat length of the expanded allele in the RE+ subjects (Spearman ρ = -0.42, P = 0.038). We found a positive correlation between anterior stromal backscatter and severity in both the RE+ and RE- groups (ρ = 0.60, P = 0.0023 and ρ = 0.44, P = 0.024, respectively). The anterior, central, and posterior
Scheimpflug densitometry measurements also positively correlated with severity in both the RE+ and RE- groups (P = 5.5 × 10-5, 2.5 × 10-4, and 2.9 × 10-4, respectively, after adjusting for the expansion status in a pooled analysis. However, for patients with severe FECD (Krachmer grades 5 and 6), the posterior densitometry measurements were higher in the RE+ group than in the RE- group (P < 0.05).
UNASSIGNED: Loss of corneal nerves in FECD supports the classification of the TCF4 trinucleotide repeat expansion disorder as a neurodegenerative disease. Haze in the anterior, central, and posterior cornea correlate with severity, irrespective of the genotype. Quantitative assessments of corneal nerves and corneal haze may be useful to gauge and monitor FECD disease severity in RE+ patients.