Singapore National Eye Centre, Singapore.
Cornea. 2010 Mar;29(3):302-6. doi: 10.1097/ICO.0b013e3181ae9038.
The purposes of this study were to describe the clinical characteristics of corneal patients with mutations in the SLC4A11 gene and to determine if these characteristics could be correlated with specific genetic mutations.
A retrospective case series review was conducted. Baseline demographic data, including gender, age at diagnosis of congenital hereditary endothelial dystrophy, family history, and pedigree information, were obtained. Information from clinical examination, including intraocular pressure, ultrasonic pachymetry, best spectacle-corrected visual acuity, axial length, and slit-lamp biomicroscopic evaluation, including corneal diameter and fundus examination, were also documented from the notes. History of corneal surgery was also recorded. Hearing loss was assessed by audiometry. Genetic analysis was performed by polymerase chain reaction amplification and sequencing.
Seven patients were identified. Four of the seven had associated hearing loss; all of the patients had undergone or were awaiting penetrating keratoplasty to one or both eyes. No correlation could be reached between the ocular phenotype and the gene mutation in this small sample. Individuals with the same mutation had different degrees of hearing loss within their respective families.
Corneal endothelial cells are more vulnerable to defects in the functional activity of SLC4A11 than cells of the striae vascularis of the inner ear. Both congenital hereditary endothelial dystrophy 2 and Harboyan syndrome have similar ocular phenotypes, ie, diffuse bilateral corneal edema present at birth or within the neonatal period; hence, audiometry must be performed to differentiate the two conditions.
本研究旨在描述 SLC4A11 基因突变的角膜患者的临床特征，并确定这些特征是否与特定的基因突变相关。
进行了回顾性病例系列研究。收集了基本人口统计学数据，包括性别、先天性遗传性内皮层营养不良的诊断年龄、家族史和系谱信息。从病历中记录了临床检查的信息，包括眼压、超声角膜测厚术、最佳矫正视力、眼轴长度和裂隙灯生物显微镜评估，包括角膜直径和眼底检查。还记录了角膜手术史。听力损失通过听力计评估。通过聚合酶链反应扩增和测序进行基因分析。
确定了 7 名患者。其中 4 名患者有听力损失；所有患者均已接受或正在等待单眼或双眼穿透性角膜移植。在这个小样本中，未发现眼表表型与基因突变之间存在相关性。具有相同突变的个体在其各自的家族中有不同程度的听力损失。
与内耳血管纹细胞相比，角膜内皮细胞对 SLC4A11 功能活性缺陷更敏感。先天性遗传性内皮层营养不良 2 型和 Harboyan 综合征具有相似的眼部表型，即出生时或新生儿期即出现弥漫性双侧角膜水肿；因此，必须进行听力计检查以区分这两种情况。
