Bevacizumab for the treatment of intraretinal cystic spaces in a patient with gyrate atrophy of the choroid and retina

ABSTRACT

Background: Gyrate atrophy of the choroid and retina is a rare autosomal recessive condition characterized by chorioretinal atrophy due to deficiency of the enzyme ornithine aminotransferase that can be complicated by intraretinal cystic spaces.

Case report: A 15-year-old female complaining of gradually progressive diminution of vision in both eyes preceded by night blindness was found to have gyrate atrophy of the choroid and retina with intraretinal cystic spaces that was evaluated using multimodal imaging including fluorescein angiography, optical coherence tomography, and optical coherence tomography angiography. Functional and anatomical improvement of the intraretinal cystic spaces was achieved with monthly intravitreal bevacizumab injections.

Conclusion: Repeated intravitreal bevacizumab injections can result in anatomical and functional improvement of intraretinal cystic spaces in patients with gyrate atrophy of the choroid and retina.     

Cystoid macular degeneration in chronic central serous chorioretinopathy

PURPOSE: To describe the optical coherence tomography (OCT) and fluorescein angiography findings in the macula of eyes with chronic central serous chorioretinopathy (CSC) and reduced central vision. METHODS: Using OCT, clinical examination, and fluorescein and indocyanine green (ICG) angiography, the authors examined eight eyes of seven patients with CSC, an attached macula, and reduced central vision of 20/200 or worse. All had a history of chronic CSC with resolution of the subretinal fluid in the macular area and poor vision. RESULTS: Patient ages ranged from 55 to 82 years (mean, 66 years). All eight eyes had some parafoveal, patchy RPE atrophy with corresponding transmission hyperfluorescence (window defect) on fluorescein angiography. Five eyes also had a window defect in the foveal area. With OCT, the foveal area revealed variable areas of cystoid change and atrophy in seven of the eight eyes. In four of these eyes, the cystoid changes were not seen on clinical examination or fluorescein angiography. The seven eyes with cystoid changes imaged with OCT had no intraretinal leakage of fluorescein in the foveal region. The authors categorized these eyes as having cystoid macular degeneration (CMD). One other eye had foveal thinning or atrophy without cystoid changes. CONCLUSIONS: Intraretinal cystoid spaces without intraretinal leakage, or CMD, was a common finding in eyes with chronic CSC and reduced central vision after resolution of subretinal fluid. OCT was useful to establish the presence of CMD and foveal atrophy, even when these changes were not clearly evident on clinical examination or fluorescein angiography. Chronic foveal detachment and antecedent intraretinal leakage were proposed to be the mechanisms for the development of the changes. CMD in conjunction with foveal atrophy was an important clinical finding to account for the poor visual outcome in patients with CSC.     

Gyrate Atrophy of the Choroid and Retina Diagnosed by Ornithine-δ-aminotransferase Gene Analysis: A Case Report

A pair of 19-year-old female identical twins was referred to our hospital with progressive visual loss. They exhibited bilateral chorioretinal atrophy involving the midperiphery on fundoscopy and fluorescein angiography. Bilateral visual field constriction was noted on dynamic Goldmann perimetry, and a markedly impaired response was observed on both photopic and scotopic electroretinograms. Cystoid macular edema was identified in both eyes on optical coherence tomography. Plasma levels of ornithine were elevated. Based on these observations, the patients were diagnosed with gyrate atrophy of the choroid and retina. The clinical diagnosis was confirmed by mutation analysis of the ornithine-δ-aminotransferase (OAT) gene. Patients were treated with a pyridoxine supplement (300 mg/day) and an arginine-restricted diet to lower plasma levels of ornithine, which were successfully reduced without progression of chorioretinal atrophy for 15 months. Our report describes the first case of gyrate atrophy in the Korean population diagnosed by OAT gene analysis and treated with vitamin B6 dietary supplementation.     

Peripheral retinopathy and maculopathy in high-dose tamoxifen therapy

PURPOSE: To describe the clinical, angiographic, and optical coherence tomography (OCT) features of high-dose tamoxifen retinopathy in three male patients. DESIGN: Observational case series. METHODS: A review of history, clinical examination, and findings on fluorescein angiography (FA) and optical coherence tomography (OCT) was conducted. RESULTS: Three male patients receiving high-dose tamoxifen therapy sought treatment for vision loss and a crystalline maculopathy. Crystalline deposits were noted in the peripheral retina of two patients. All the patients showed macular leakage by FA, but cystoid macular edema (CME) on OCT was detected in two patients. Inner retinal hyperreflective deposits were identified by OCT in all the patients. CONCLUSIONS: High-dose tamoxifen therapy may result in peripheral crystalline retinopathy in addition to perifoveal opacities. Angiographic evidence of macular edema may not unanimously correlate with presence of CME on OCT in these cases.     

Epiretinal membranes and cystoid macular edema in gyrate atrophy of the choroid and retina

A 26-year-old woman with gyrate atrophy of the choroid and retina and hyperornithinemia lost central visual acuity because of cystoid macular edema associated with epiretinal membrane formation. Dietary manipulation over a 5-month interval reduced the plasma ornithine levels 37% but did not halt the progression of the gyrate atrophy nor influence the cystoid edema or visual acuity.     

视网膜中央静脉阻塞黄斑损害的光学相干断层扫描图像观察

目的 观察视网膜中央静脉阻塞(central retinal vein occlusion,CRVO)所致黄斑损害的光学相干断层扫描(optical coherence tomography,OCT)检查的图像特征。 方法 38例经间接检眼镜和荧光素眼底血管造影(fundus fluorescein angiography,FFA)检查确诊的CRVO患者接受了OCT检查。所有操作集中在黄斑区，以通过中心凹的等长度和等角度间隔的4线扫描为基础，并依据个体情况进行改变扫描线长度、角度及扫描方式的附加扫描。 结果 15只眼表现为黄斑中心凹囊泡样改变，6只眼表现为黄斑区神经上皮脱离，11只眼黄斑区神经上皮不同程度增厚，4只眼黄斑中心凹形态大致正常，神经上皮层间有细小液性暗腔，2只眼神经上皮显著增厚，层间大量液性腔隙，黄斑前膜组织增生。 结论 CRVO黄斑损害的主要OCT图像特征为黄斑囊样水肿、神经上皮脱离以及继发黄斑前膜和色素上皮的改变。了解这些特征性改变有助于对CRVO黄斑损害的诊断和评估。 (中华眼底病杂志, 1999, 15: 201-204)     

Serous macular detachment in central retinal vein occlusion

PURPOSE: To describe serous macular detachment in patients with central retinal vein occlusion (CRVO) by using optical coherence tomography (OCT). METHODS: This study included 22 eyes of 22 consecutive patients with CRVO. The patients underwent complete ophthalmic examination, including corrected visual acuity measurement, slit-lamp biomicroscopy, indirect ophthalmoscopy, color fundus photography, fluorescein angiography, and OCT. RESULTS: Twenty-two patients (22 eyes) with cystoid macular edema associated with CRVO (10 women and 12 men; age range, 48-75 years [average, 62.5 years]) made up the study population. Angiographically, all patients had typical cystoid macular edema. At the time of initial examination, no patient was suspected of having a serous macular detachment associated with CRVO. The mean foveal thickness as determined by OCT was 567.4 microm. In all cases, the increased thickness of the retina was related primarily to the hyporeflective intraretinal cavities. A serous macular detachment composed of retinal elevation over a nonreflective cavity with minimal shadowing of the underlying tissues was seen in 18 eyes (81.8%). CONCLUSION: OCT findings in this study showed that serous macular detachment in patients with CRVO occurs more often than previously thought. Our data also showed that noncontact fundus ophthalmoscopy and fluorescein angiography were not sufficient to diagnose serous macular detachment in CRVO.     

外伤性黄斑病变的OCT特征研究

目的研究外伤性黄斑病变的相干光断层扫描（OCT）图像特征,以总结其患病规律。设计回顾性病例系列。研究对象477例（486眼）4-76岁的外伤性黄斑病变患者。方法回顾及分析2002年9月．2009年6月在北京同仁医院眼科门诊就诊的不同类型外伤性黄斑病变患者的门诊病历资料及OCT图像。主要指标OCT图像特征。结果外伤性黄斑病变的OCT表现主要有九种：黄斑裂孔、神经上皮层脱离、黄斑出血、黄斑水肿、黄斑前膜、脉络膜破裂、黄斑部神经上皮层萎缩薄变、色素上皮层萎缩及脉络膜萎缩。在外伤的早期,较常见的OCT表现为黄斑部色素上皮层萎缩（49．0％）、黄斑裂孔（24．7％）、神经上皮层脱离（26．3％）、黄斑出血（24．2％）、黄斑水肿（19．2％）;在外伤的中晚期,较常见的OCT表现为黄斑部色素上皮层萎缩（63．0％）、神经上皮层萎缩薄变（36．5％）。结论外伤性黄斑病变以多种OCT表现并存为多,黄斑部视网膜色素上皮层萎缩是贯穿外伤早期、中晚期最多的表现。外伤性黄斑病变早期以黄斑裂孔、视网膜脱离、黄斑出血、黄斑水肿为主,中晚期以黄斑部神经上皮层及色素上皮层萎缩为主。（眼科,2009,18：236-238）     

Optische Kohärenz-Tomographie und topographische Angiographie am Beispiel der Atrophia gyrata Korrelation morphologischer Veränderungen bei perizentraler Aderhautdystrophie

PURPOSE: To characterize ultrastrructual changes in atrophic disease of the retina, RPE and choroid as seen with gyrate atrophy using two new diagnostic modalities, optical coherence tomography (OCT) and topographic angiography. PATIENT AND METHOD: OCT images were taken in a patient with pericentral choroidal atrophy using a slit-lamp-adapted OCT system. Ophthalmoscopy, conventional and topographic angiographic findings were correlated to the reflectivity changes as seen on OCT. RESULTS: Areas of chorioretinal atrophy correlated with a loss of reflectivity in the RPE-choriocapillaris complex on OCT. Additionally OCT identified a thinning of the nerve fiber layer. Topographic angiography demonstrated an extensive defect, seen as an area of depression, consistent with a loss of choriocapillaris and larger-sized choroidal vessels. In contrast to conventional angiography, central islands were not found to demonstrate structural intensity, while the midperipheral surrounding area was clearly elevated to physiological levels. CONCLUSION: OCT and topographic angiography provide in vivo insight into morphologic changes within neurosensory retina and choroid caused by pericentral choroidal atrophy.     

糖尿病性黄斑水肿OCT和FFA形态学分类的对比分析

目的探讨糖尿病性黄斑水肿相干光断层扫描(OCT)和眼底荧光素血管造影(FFA)的形态学特征、分类及相互关系。设计前瞻性病例系列。研究对象临床有意义糖尿病性黄斑水肿(CSME)患者102例177眼。方法分别对CSME组患者进行OCT及FFA检查,观察两种分类之间的相互关系,并与中心凹中心厚度、最佳矫正视力等临床资料进行对比分析。主要指标CSME患者的OCT及FFA类型、中心凹中心厚度、最佳矫正视力。结果FFA分类的局限水肿型在OCT1型中所占的比例为70.6%,高于弥漫水肿型(27.2%)和囊样水肿型(2.2%)(P<0.05)。FFA弥漫水肿型在OCT2型中占47.9%,明显高于局限水肿型(25.0%)和囊样水肿型(27.1%)(P<0.05)。FFA分类的囊样水肿型在OCT3型(3A型 3B型)中占56.8%,明显高于局限水肿型(10.8%)和弥漫水肿型(32.4%)(P<0.05)。OCT1型及FFA局限水肿型的矫正视力最好,黄斑中心凹中心厚度值最小(P<0.05)。结论CSME患者OCT与FFA的形态学类型密切相关。结合两种检查方法,可更加全面地反映CSME患者黄斑区视网膜的变化,为揭示糖尿病性黄斑水肿的病理机制、寻求每种类型的最佳治疗方案提供参考。     

OCT bei Makulaödem

Optical coherence tomography (OCT) allows for morphological assessment of macular edema of various origins by producing two-dimensional images of the retina. In addition, retinal thickness can be measured quantitatively. In diabetic maculopathy, damage of the blood-retinal barrier can be indirectly assessed by locating the intraretinal fluid accumulation and the progress of maculopathy from diffuse to cystoid edema and even rupture of the retinal structure can be described as well as the formation of neurosensory retinal detachment with subretinal fluid. Increase of retinal thickness correlates with decrease in visual acuity. Detailed interpretation of OCT images can replace fluorescein angiography in certain cases, as has been shown for uveitis. In order to obtain correct classification of macular disease in routine clinical use, all images have to be completely assessed and compared to previous investigations and to the measurements of the fellow eye. More accurate normal values of retinal thickness and volume can be expected in the future. The importance of OCT in routine clinical assessment of macular edema will most probably continue to grow.     

双眼特发性黄斑囊样水肿4例

我们报告4例双眼特发性黄斑囊样水肿(CME)的临床表现、眼底血管荧光造影和干涉光断层扫描(OCT)检查结果。患者均为男性,年龄30 ～52岁之间。均以双眼视物不见1wk主诉就诊。眼底检查显示双眼后极部黄斑水肿。荧光造影检查结果显示:1例未见特异性改变;其余可见典型的花瓣状图像。OCT检查均见视网膜下积液。所有患者均按特发性黄斑囊样水肿之诊断治疗,6wk后,视力提高。     

OCT和OCTA生物学标志物在糖尿病性黄斑水肿中应用的研究进展

糖尿病性黄斑水肿(DME)是导致糖尿病患者视力丧失的重要原因。光学相干断层扫描(OCT)检查能够清晰地显示黄斑区视网膜和脉络膜的细微结构,并对黄斑区各组织层次结构进行定性和定量分析。OCT血管成像(OCTA)是在OCT基础上发展而来的一种非侵入性血管成像技术,具有无创、高速、高分辨率的特点,可提供视网膜和脉络膜血管结构的三维图像,实现病变的定量检测和分层检测。通过OCT观察黄斑区视网膜的形态和细微结构及OCTA评估血流变化已成为DME的研究热点。本文就OCT和OCTA各生物学标志物在DME病程发展及其抗血管内皮生长因子药物治疗中的应用进行阐述,以期为评估DME的严重程度、调整治疗方案并判断疾病预后提供参考。     

Serous macular detachment in diabetic cystoid macular oedema

PURPOSE: To define serous macular detachment in patients with diabetic cystoid macular oedema (CME). METHODS: This study involved 78 eyes of 58 patients with diabetic CME. The patients underwent complete ophthalmic examination, fluorescein angiography and optical coherence tomography (OCT). Eyes with epiretinal membrane or vitreo-macular traction were not included in the study. Optical coherence tomography-3 was used in all patients and fundi were scanned on the horizontal, vertical and four oblique planes through the centre of the fovea. RESULTS: In all cases the increased thickness of the retina was related primarily to the hyporeflective intraretinal cavities. With OCT, 24 of 78 eyes (31%) had serous macular detachment as shown by retinal elevation over a non-reflective cavity with minimal shadowing of the underlying tissues. Fluorescein angiography did not show serous macular detachment in any patient. CONCLUSIONS: Our data showed that the incidence of serous macular detachment in diabetic CME was much higher than previously reported. Optical coherence tomography-3 allows an in vivo cross-sectional observation of very subtle serous macular detachment that is difficult to diagnose at the slit-lamp or by fluorescein angiography in patients with diabetic CME.     

The correlation between fluorescein angiographic and optical coherence tomographic features in clinically significant diabetic macular edema

PURPOSE: To assess the correlation between the features of optical coherence tomography (OCT) and fluorescein angiography in clinically significant diabetic macular edema. DESIGN: Retrospective observational case series. METHODS: This study involved 145 eyes (91 patients) with clinically significant diabetic macular edema. The fluorescein angiography features were categorized into focal leakage type, diffuse leakage type, and diffuse cystoid leakage type. The OCT features were categorized into four types: type 1, thickening with homogeneous optical reflectivity; type 2, thickening with markedly decreased optical reflectivity in the outer retinal layer; type 3A, foveolar detachment without traction; and type 3B, foveolar detachment with apparent vitreofoveal traction. The correlation between fluorescein angiography types and OCT types were analyzed, and their associations with visual acuity, central foveal thickness. and stages of diabetic retinopathy were evaluated. RESULTS: The prevalence of OCT type 1 was higher in the focal leakage type (73.0%) and in the diffuse leakage type (58.9%) than in the diffuse cystoid leakage type (3.8%) of fluorescein angiography (P <.0001). The prevalence of OCT type 2 and 3A was higher in the diffuse cystoid leakage type (57.7% and 34.6%, respectively) than in the focal leakage type (20.6% and 3.2%) or diffuse leakage type(28.6% and 10.7%; P <.0001). The stages of retinopathy correlated with fluorescein angiography types (P =.016). Optical coherence tomography type 1 and the focal leakage type of fluorescein angiography showed the least foveal thickness and the best visual acuity (P <.05). CONCLUSIONS: There was a significant correlation between the features of OCT and fluorescein angiography in clinically significant diabetic macular edema. The combined data from both OCT and fluorescein angiography may provide a clearer understanding of the anatomic and physiologic characteristics of clinically significant diabetic macular edema.     

视网膜脱离复位后的光学相干断层照像

观察视网膜脱离复位后的光学相干断层扫描 (opticalcoherencetomography ,OCT)。方法 :34例波及黄斑部的孔源性视网膜脱离复位后的患者分别于术后 3天、 1月、 2月、 3月、 4月、 5月、 6月进行OCT观察 6个月。结果 :术后 3天所有病例均残留程度不等的视网膜下液 ;术后 6月 ,共复位 14例 ( 3例视网膜呈水肿样增厚 ,2例变性 ,1例视网膜下出现新生血管 ,1例黄斑囊样水肿 ,继而发展成黄斑裂孔 ) ;2 0例视网膜下仍有少量残留液体。结论 :OCT可从微观角度直接客观的在活体上检测视网膜的复位状况及组织结构。 (波及黄斑部的 )孔源性视网膜脱离复位后的视网膜下仍有少量残留液体 ,残留液体的长期存在影响术后视功能的恢复。     

Optical coherence tomography of bilateral posterior microphthalmos with papillomacular fold and novel features of retinoschisis and dialysis

PURPOSE: To report a case of retinoschisis and dialysis associated with bilateral posterior microphthalmos and papillomacular fold. DESIGN: Observational case series. METHODS: Complete ophthalmologic examination of three of five siblings presenting with bilateral posterior microphthalmos and papillomacular fold. Optical coherence tomography (OCT) data are presented to confirm the abnormal anatomy. RESULTS: All subjects have bilateral elevated horizontal papillomacular retinal fold with cystoid macular edema and shallow subretinal fluid. Optical coherence tomography was consistent with our examinations. One subject, a 13-year-old Hispanic, initially presented with retinoschisis in the superotemporal quadrant of the left retina that developed 9 years later into a retinal dialysis without subretinal fluid. The right eye of this same patient developed retinoschisis in the far superotemporal retinal periphery during 9 years of observation. CONCLUSION: Retinoschisis and dialysis may occur in patients with posterior microphthalmos with papillomacular fold. Optical coherence tomography may be helpful in assessing these patients.     

光学相干断层扫描对糖尿病性黄斑水肿的诊断意义

目的:观察黄斑水肿的光相干断层扫描(OCT)图像特征;探讨糖尿病黄斑水肿与视力、糖尿病性视网膜病变分期和糖尿病病程的关系。方法:对58例(97眼)患者通过荧光血管造影分期分组,OCT测量各组厚度后,采用SPSS10.0软件进行统计学分析,分析各型黄斑水肿构成比及其与视力、糖尿病病程、分期的关系。结果:黄斑水肿的OCT图像主要包括视网膜海绵样肿胀、黄斑囊样水肿及神经上皮浆液性脱离;随糖尿病病程延长,糖尿病视网膜病变的发展,黄斑水肿构成比逐渐增加、病变加重,黄斑区视网膜厚度有增加趋势,视功能受损程度加重。结论:糖尿病性视网膜黄斑水肿的OCT图像为临床提供类似病理学的直观资料,尤其对治疗的随诊及判定预后具有重要参考价值。     

Tomographic assessment of vitreous surgery for diabetic macular edema

PURPOSE: To evaluate the retinal structure before and after vitrectomy for diabetic macular edema and to assess the correlation between thickness of neurosensory retina and best-corrected visual acuity. METHODS: Tomographic features of 13 eyes (nine patients) with diabetic macular edema were prospectively evaluated with optical coherence tomography before and after vitrectomy. The foveal thickness (the distance between the inner retinal surface and the retinal pigment epithelium) and the retinal thickness (thickness of neurosensory retina) were measured by optical coherence tomography preoperatively and postoperatively. The correlation of the best-corrected visual acuity with foveal and retinal thickness was determined. RESULTS: All 13 eyes had retinal swelling with low intraretinal reflectivity. In addition to retinal swelling, there were cystoid spaces in five (38%) of 13 eyes, a serous retinal detachment in three (23%), and both cystoid spaces and serous detachment in three (23%). Six months postoperatively, the mean foveal thickness significantly decreased from 630 +/- 170 to 350 +/- 120 microm (P <.01, paired t test) and the mean thickness of neurosensory retina decreased from 540 +/- 160 to 320 +/- 140 microm (P <.01, paired t test). A serous retinal detachment occurred transiently in 3 eyes. Compared with the preoperative level, the postoperative best-corrected visual acuity level improved by more than 2 lines in five of the 13 eyes (38%), remained the same in seven eyes (54%), and decreased in one eye (8%). The postoperative thickness of neurosensory retina at the fovea and best-corrected visual acuity level at the sixth postoperative month had a strong negative correlation (correlation coefficient, -0.76; P <.01, Spearmans rank test). CONCLUSIONS: Vitrectomy was generally effective in treatment of diabetic macular edema. Optical coherence tomography demonstrated the intraretinal changes of macular edema and the process of edema absorption. During the process of macular edema absorption, intraretinal fluid appeared to move into the subretinal space in some cases. Best-corrected visual acuity improvement was greater in eyes with less preoperative increase in thickness of neurosensory retina.