结晶样视网膜色素变性的OCT特点
发布时间：2019-01-10 16:31
【摘要】：目的分析结晶样视网膜色素变性(BCD)患者的光学相干断层扫描(OCT)特点和致病基因突变情况。方法对确诊为BCD的21例患者进行全面的眼科检查及OCT检查,观察其病变特点;并提取外周血基因组DNA,采用PCR和直接测序方法对患者进行CYP4V2基因突变筛查。结果所有患者的典型表现为夜盲、眼底见后极部及中周部视网膜大量结晶样颗粒。此外,3例患者6眼合并角膜结晶样物质沉积。其中1例患者合并虹膜高褶型青光眼。OCT影像显示,所有患者均可见视网膜各层次内大小不一的高反射点,其中17例患者32眼有外层视网膜管腔,1眼合并网膜下纤维血管膜,3眼合并视网膜前膜。21例患者42眼中心视网膜厚度平均为(154.29±59.39)μm,中心凹下脉络膜厚度平均(151.40±51.00)μm。遗传筛查显示CYP4V2基因的c.1091-2AG、c.992AC、c.802-8_810del17ins GC是最常见的BCD致病突变。结论 BCD患者中心视网膜及脉络膜的萎缩变薄及外层视网膜管腔等改变,可能是晚期患者中心视力下降的重要原因。外显子7、8、9是CYP4V2基因的突变热点。
[Abstract]:Objective to analyze the characteristics of optical coherence tomography (OCT) and the mutation of pathogenic gene in patients with crystalline retinal pigmentosa (BCD). Methods 21 patients with BCD were examined by ophthalmology and OCT, and peripheral blood genomic DNA, was extracted and screened for mutation of CYP4V2 gene by PCR and direct sequencing. Results the typical manifestations of all the patients were night blindness, and a large number of crystalline granules in the posterior pole and the middle part of the retina were found in the fundus of the eyes. In addition, 6 eyes of 3 patients with corneal crystalline substance deposition. Among them, one patient was complicated with iridopleated glaucoma. OCT images showed that all the patients had high reflex points of different sizes in the retina, including 17 patients (32 eyes) with outer retinal lumen, and 1 eye with subomentum fibrous vascular membrane. The mean central retinal thickness was (154.29 卤59.39) 渭 m in 42 eyes of 21 patients and the average thickness of subcentral foveal choroid was (151.40 卤51.00) 渭 m. Genetic screening showed that the CYP4V2 gene c.1091-2AGN c.992ACN c.802-8Serge 810del17ins GC was the most common mutation in BCD. Conclusion the atrophy of central retina and choroid and the change of outer retinal lumen in patients with BCD may be the important causes of central visual acuity decline in late stage patients. Exon 7, exon 8, is the hot spot of CYP4V2 gene mutation.
【作者单位】： 安陆市普爱医院眼科;华中科技大学同济医学院附属协和医院眼科;华中科技大学生命科学与技术学院遗传与发育生物学系;
【基金】：湖北省自然科学基金资助项目(编号:2015CFB655)
【分类号】：R774.1
，
本文编号：2406537
[Abstract]:Objective to analyze the characteristics of optical coherence tomography (OCT) and the mutation of pathogenic gene in patients with crystalline retinal pigmentosa (BCD). Methods 21 patients with BCD were examined by ophthalmology and OCT, and peripheral blood genomic DNA, was extracted and screened for mutation of CYP4V2 gene by PCR and direct sequencing. Results the typical manifestations of all the patients were night blindness, and a large number of crystalline granules in the posterior pole and the middle part of the retina were found in the fundus of the eyes. In addition, 6 eyes of 3 patients with corneal crystalline substance deposition. Among them, one patient was complicated with iridopleated glaucoma. OCT images showed that all the patients had high reflex points of different sizes in the retina, including 17 patients (32 eyes) with outer retinal lumen, and 1 eye with subomentum fibrous vascular membrane. The mean central retinal thickness was (154.29 卤59.39) 渭 m in 42 eyes of 21 patients and the average thickness of subcentral foveal choroid was (151.40 卤51.00) 渭 m. Genetic screening showed that the CYP4V2 gene c.1091-2AGN c.992ACN c.802-8Serge 810del17ins GC was the most common mutation in BCD. Conclusion the atrophy of central retina and choroid and the change of outer retinal lumen in patients with BCD may be the important causes of central visual acuity decline in late stage patients. Exon 7, exon 8, is the hot spot of CYP4V2 gene mutation.
【作者单位】： 安陆市普爱医院眼科;华中科技大学同济医学院附属协和医院眼科;华中科技大学生命科学与技术学院遗传与发育生物学系;
【基金】：湖北省自然科学基金资助项目(编号:2015CFB655)
【分类号】：R774.1
，
本文编号：2406537
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