UCL Institute of Ophthalmology, London, UK.
External Diseases Service, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Br J Ophthalmol. 2021 Nov;105(11):1491-1496. doi: 10.1136/bjophthalmol-2020-316672. Epub 2020 Sep 15.
BACKGROUND/AIMS: Congenital corneal anaesthesia (CCA) is an uncommon cause of corneal ulceration in young patients, with a reported poor visual prognosis. We correlated clinical findings in patients with CCA with corneal sub-basal nerve plexus (SBNP) morphology and dendritiform cell density (DCD) on confocal microscopy.
A prospective, case-control study was conducted at a referral clinic. History includied presenting features in patients with CCA, clinical course and examination findings. Differences in SBNP morphology and DCD on confocal microscopy (IVCM) were compared in cases and control subjects with healthy corneas.
Eight patients with CCA were examined, of which three had a diagnosis of familial dysautonomia. Age at initial diagnosis of corneal disease ranged from infancy to 22 years, the most common presentation being corneal ulceration. All patients with CCA except one with optic neuropathy had corrected visual acuity 6/18 (logMAR 0.35) or better in at least one eye. Measured corneal sensation was minimal in all patients. Major abnormalities were found on confocal microscopy in all patients with CCA, whether or not inherited, including statistically significant reduction in SBNP nerve fibre density, fibre length and branch density. Increased DCD in superficial cornea was found in all patients with CCA.
Good visual acuity can be maintained in eyes with corneal anaesthesia present from birth. IVCM provides direct evidence of a morphological correlate for measured corneal anaesthesia. Increased DCD may indicate an enhanced role for innate immune cells in superficial cornea in protection of the anaesthetic ocular surface.
背景/目的：先天性角膜感觉丧失（CCA）是年轻患者角膜溃疡的一个不常见原因，其视觉预后较差。我们将 CCA 患者的临床发现与角膜基质神经丛（SBNP）形态和树突状细胞密度（DCD）在共聚焦显微镜下的表现相关联。
在一个转诊诊所进行了一项前瞻性病例对照研究。病史包括 CCA 患者的表现特征、临床过程和检查结果。在有健康角膜的病例和对照组之间，比较了 SBNP 形态和 DCD 在共聚焦显微镜（IVCM）上的差异。
共检查了 8 例 CCA 患者，其中 3 例诊断为家族性自主神经异常。角膜疾病的初始诊断年龄从婴儿到 22 岁不等，最常见的表现是角膜溃疡。除 1 例视神经病变外，所有 CCA 患者至少有一眼矫正视力为 6/18（logMAR 0.35）或更好。所有 CCA 患者的角膜感觉均明显减弱。所有 CCA 患者，无论是否遗传，均在共聚焦显微镜下发现主要异常，包括 SBNP 神经纤维密度、纤维长度和分支密度的统计学显著降低。所有 CCA 患者的浅层角膜均发现 DCD 增加。
从出生时就存在角膜感觉丧失的眼睛可以保持良好的视力。IVCM 提供了测量性角膜感觉丧失的形态学相关性的直接证据。DCD 的增加可能表明先天免疫细胞在保护麻醉眼球表面方面在浅层角膜中发挥了增强作用。
