Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis
Genotype and Anterior Segment Phenotype in a Cohort of Turkish Patients with Lamellar Ichthyosis
复制标题
土耳其板层状鱼鳞病患者队列的基因型和眼前节表型
作者：
M. Palamar;H. Onay;İ. Ertam;E. Ateş;T. Dereli;F. Ozkinay;A. Yağcı
摘要目的：目的探讨板层状鱼鳞病的眼表和眼地形学表现及其与TGM 1、CYP 4F 22和NIPAL 4基因突变的关系。方法：对12例板层状鱼鳞病患者进行分析。进行常规眼科检查，包括Schirmer 1、泪膜破裂时间和眼表染色评分、地形图以及对TGM 1、NIPAL 4和CYP 4F 22基因编码外显子的遗传评价。结果：患者年龄4-31岁，平均19.75 ± 9.15岁。右眼和左眼的平均Schirmer 1评分相似（18.75 ± 3.10 mm）。右眼和左眼的平均泪膜破裂时间分别为6.58 ± 2.74和6.58 ± 3.02秒。右眼平均眼表染色等级为0.36 ± 0.20，左眼为0.39 ± 0.17。圆锥角膜2例。发现2例双侧白内障形成患者，基因测序发现1例CYP 4F 22基因R326 X纯合突变，2例NIPAL 4基因A176 D纯合突变，3例同一基因M1 T纯合突变。在圆锥角膜患者和双侧白内障形成患者中检测到突变。结论：板层状鱼鳞病的眼睑畸形及泪膜破裂时间缩短可能会导致视力受损的并发症。遗传咨询的突变可能使医生预测即将到来的层状鱼鳞病患者的眼部问题的可能性。
Abstract Purpose: To evaluate the ocular surface and topography findings of lamellar ichthyosis, and to investigate the correlation of these findings with mutations in TGM1, CYP4F22 and NIPAL4 genes. Methods: Twelve patients with lamellar ichthyosis were evaluated. Routine ophthalmic examination including Schirmer 1, tear break-up time and ocular surface staining score, topography, and genetic evaluation for coding exons of TGM1, NIPAL4 and CYP4F22 genes were performed. Results: The mean age of the patients was 19.75 ± 9.15 (range, 4–31) years. Mean Schirmer 1 scores of the right and the left eyes were similar (18.75 ± 3.10 mm). Mean tear break-up time of the right and the left eyes were 6.58 ± 2.74, 6.58 ± 3.02 seconds, respectively. Mean ocular surface staining grade was 0.36 ± 0.20 in the right, and 0.39 ± 0.17 in the left eyes. Keratoconus was detected in two patients. Two patients with bilateral cataract formation were found. Genetic sequencing revealed that one case had homozygous R326X mutation in the CYP4F22 gene, two cases had homozygous A176D mutation in the NIPAL4 gene, and three had homozygous M1T mutation in the same gene. Mutations were detected in patients with keratoconus and in a patient with bilateral cataract formation. Conclusions: In lamellar ichthyosis, eyelid malformations together with decreased tear break-up time might cause sight-threatening complications. Genetic counseling for mutations might enable the physician to predict the possibility of upcoming ocular problems in lamellar ichthyosis patients.
影响因子：
4.2
作者：
KENNEDY, RH;BOURNE, WM;DYER, JA
通讯作者：
DYER, JA