Laborante A, Longo C, De Bonis P, Bisceglia L
Ophthalmology Unit and Medical Genetics Unit, Hospital Casa Sollievo della Sofferenza - IRCCS, S. Giovanni Rotondo, Italy.
Clin Ter. 2013;164(1):e41-3. doi: 10.7417/CT.2013.1520.
To report clinical findings and molecular defect in three subjects affected by Biber-Haab-Dimmer dystrophy or Lattice Corneal Dystrophy Type I (LCD1), a corneal dystrophy transmitted as an autosomal dominant tract.
Three subjects underwent a complete ophthalmic examination and confocal microscopy study. Following the collection of DNA from the patients, the TGFBI gene was screened for mutations by direct sequencing.
Confocal microscopy study revealed that the opacity typical of the disease was assembled in the axial region of the cornea. The causative TGFBI mutation p.Val631Asp was identified in all subjects.
The finding of the p.Val631Asp mutation responsible for this form of LCD-Variant highlights the utility of molecular genetic analysis of the TGFBI gene in order to offer early diagnosis. These results provide more data for molecular diagnosis and prognosis of this clinical and genetic heterogeneous disease.
报告三名患有比伯 - 哈布 - 迪默营养不良症或Ⅰ型格子状角膜营养不良（LCD1）的患者的临床发现和分子缺陷，这是一种以常染色体显性遗传方式传递的角膜营养不良症。
三名患者接受了全面的眼科检查和共焦显微镜研究。在从患者身上采集DNA后，通过直接测序对TGFBI基因进行突变筛查。
共焦显微镜研究显示，该病典型的混浊聚集在角膜的轴向区域。在所有患者中均鉴定出致病性TGFBI突变p.Val631Asp。
导致这种形式的LCD - 变体的p.Val631Asp突变的发现突出了TGFBI基因分子遗传分析在早期诊断中的作用。这些结果为这种临床和遗传异质性疾病的分子诊断和预后提供了更多数据。
