結(jié)晶樣視網(wǎng)膜色素變性的OCT特點
發(fā)布時間：2019-01-10 16:31
【摘要】：目的分析結(jié)晶樣視網(wǎng)膜色素變性(BCD)患者的光學(xué)相干斷層掃描(OCT)特點和致病基因突變情況。方法對確診為BCD的21例患者進行全面的眼科檢查及OCT檢查,觀察其病變特點;并提取外周血基因組DNA,采用PCR和直接測序方法對患者進行CYP4V2基因突變篩查。結(jié)果所有患者的典型表現(xiàn)為夜盲、眼底見后極部及中周部視網(wǎng)膜大量結(jié)晶樣顆粒。此外,3例患者6眼合并角膜結(jié)晶樣物質(zhì)沉積。其中1例患者合并虹膜高褶型青光眼。OCT影像顯示,所有患者均可見視網(wǎng)膜各層次內(nèi)大小不一的高反射點,其中17例患者32眼有外層視網(wǎng)膜管腔,1眼合并網(wǎng)膜下纖維血管膜,3眼合并視網(wǎng)膜前膜。21例患者42眼中心視網(wǎng)膜厚度平均為(154.29±59.39)μm,中心凹下脈絡(luò)膜厚度平均(151.40±51.00)μm。遺傳篩查顯示CYP4V2基因的c.1091-2AG、c.992AC、c.802-8_810del17ins GC是最常見的BCD致病突變。結(jié)論 BCD患者中心視網(wǎng)膜及脈絡(luò)膜的萎縮變薄及外層視網(wǎng)膜管腔等改變,可能是晚期患者中心視力下降的重要原因。外顯子7、8、9是CYP4V2基因的突變熱點。
[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 鹵59.39) 渭 m in 42 eyes of 21 patients and the average thickness of subcentral foveal choroid was (151.40 鹵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.
【作者單位】： 安陸市普愛醫(yī)院眼科;華中科技大學(xué)同濟醫(yī)學(xué)院附屬協(xié)和醫(yī)院眼科;華中科技大學(xué)生命科學(xué)與技術(shù)學(xué)院遺傳與發(fā)育生物學(xué)系;
【基金】：湖北省自然科學(xué)基金資助項目(編號:2015CFB655)
【分類號】：R774.1
，
本文編號：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 鹵59.39) 渭 m in 42 eyes of 21 patients and the average thickness of subcentral foveal choroid was (151.40 鹵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.
【作者單位】： 安陸市普愛醫(yī)院眼科;華中科技大學(xué)同濟醫(yī)學(xué)院附屬協(xié)和醫(yī)院眼科;華中科技大學(xué)生命科學(xué)與技術(shù)學(xué)院遺傳與發(fā)育生物學(xué)系;
【基金】：湖北省自然科學(xué)基金資助項目(編號:2015CFB655)
【分類號】：R774.1
，
本文編號：2406537
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