局灶性脉络膜凹陷临床特征

目的：观察局灶性脉络膜凹陷（FCE）的临床特征。方法：回顾性系列病例研究。收集2016年10月至2017年11月在金华眼科医院就诊的FCE患者12例（22眼）。所有患者行最佳矫正视力、裂隙灯显微镜、间接眼底镜、光学相干断层扫描（OCT）及超广角激光扫描检眼镜等检查，部分患者行荧光素钠眼底血管造影检查。结果：12例患者中，双眼FCE 10例，单眼FCE 2例。22眼中，正视10眼，近视12眼。患眼初诊BCVA（LogMAR）为0～0.5（0.18±0.11）。眼底检查FCE处17 眼表现为大致正常，2眼有不同程度脱色素或黄白色病灶，2 眼黄斑区见盘状水肿，1 眼黄斑区见出血、渗出灶。OCT检查示22 眼均呈单一FCE；16眼（16/22）为偏中心凹型FCE，6眼（6/22）为中心凹下型FCE。2眼（2/22）合并中心性浆液性脉络膜视网膜病变，经治疗后神经上皮层下积液吸收，FCE处无明显改变。1眼（1/22）合并脉络膜新生血管，经多次抗血管内皮生长因子治疗后病情反复。结论：FCE多双眼发病，也可单眼发病；可合并中心性浆液性脉络膜视网膜病变，也可合并脉络膜新生血管，与屈光状态有一定的相关性；视力可正常或不同程度下降；FCE处眼底表现大部分完全正常，当出现合并症时可出现相对应症状。     

Retinitis Pigmentosa: A Review of the Tapeto-Retinal Dystrophies

ABSTRACT: The signs and symptoms, clinical course, underlying pathology, hereditary characteristics and management of retinitis pigmentosa are reviewed. Aberrant forms of retinitis pigmentosa are discussed and those syndromes in which retinitis pigmentosa feature are listed.     

Development of Secondary Choroidal Neovascularization in Focal Choroidal Excavation of Punctate Inner Choroidopathy

ABSTRACT

Purpose: To elaborate a case of focal choroidal excavation (FCE) in punctate inner choroidopathy (PIC) complicated by secondary choroidal neovascularization (CNV) based on multimodal imaging findings.

Methods: In this retrospective case report, multimodal imaging including near-infrared reflectance, blue peak autofluorescence, spectral domain-optical coherence tomography (OCT), fluorescein and indocyanine green angiography (Heidelberg Engineering GmbH, Germany), and swept source-OCT angiography (SS-OCTA; Topcon Corporation, Japan) was performed.

Patients: A 27-year-old moderate myopic woman presented with inactive CNV of unknown origin in her left eye, which had been previously treated with intravitreal anti-vascular endothelial growth factor.

Results: Multimodal imaging revealed PIC as the causative disease and systemic corticosteroids were administered. Similar complaints 13 months later showed new CNV formation at the already documented FCE. No sign of PIC could be detected at follow-up.

Conclusion: This well-documented case highlighted FCE as the preferential location for CNV development in PIC with multimodal imaging emphasizing a chorioretinal entity.

Summary: This case report demonstrated the clinical course of focal choroidal excavation in a patient initially diagnosed with punctate inner choroidopathy complicated by choroidal neovascularization and its treatment response, well documented by multimodal imaging including optical coherence tomography angiography.     

脉络膜脱离型视网膜脱离术后黄斑中心凹下脉络膜厚度的变化

目的观察脉络膜脱离型视网膜脱离（RRDCD）患者接受玻璃体切割（PPV）复位视网膜后硅油填充状态下黄斑中心凹下脉络膜厚度（SCT）的变化。方法回顾性病例对照研究。2016年1月至2017年10月在武汉大学人民医院眼科中心就诊的35例首次接受PPV成功复位视网膜的RRDCD患者纳入研究（作为RRDCD组）。记录患者术后1d、1周、1个月、3个月的最佳矫正视力（BCVA）（LogMAR）、眼压,采用光学相干断层扫描（OCT）测量SCT。36例首次接受PPV成功复位视网膜的单纯孔源性视网膜脱离（RRD）患者作为RRD组及40例医院的体检者作为正常组。数据采用秩和检验（H检验）、重复测量方差分析、独立样本t检验、卡方检验等进行分析。结果术后1d、1周,RRDCD组、RRD组SCT均较正常组厚（术后1d：t=9.220,P<0.001;t=6.826,P<0.001。术后1周：t=4.341,P=0.011;t=2.849,P=0.034）,而这2个时间点RRDCD组和RRD组间的SCT差异无统计学意义。术后3个月,RRD组SCT与正常组比较差异无统计学意义（t=1.597,P=0.646）,而RRDCD组SCT相对正常组及RRD组都要薄,差异有统计学意义（t=-3.144,P=0.028;t=-6.207,P=0.010）。术后RRDCD组和RRD组SCT均呈持续降低趋势。相关性分析显示术后3个月,RRDCD组SCT与BCVA呈正相关（r=0.399,P=0.017）,RRD组SCT与BCVA无相关性（r=0.109,P=0.529）。结论RRDCD术后黄斑SCT变薄,且SCT与BCVA相关。SCT可以作为评估RRDCD术后视力的临床指标。     

Retinal arteriovenous communication in retinitis pigmentosa with Refsum's disease-like findings

In this report we describe, herewith, a patient with primary pigmentary dystrophy of the retina (retinitis pigmentosa) associated with unilateral retinal arteriovenous communication and exudative retinal detachment. The patient had complete resolution of the retinal detachment following laser photocoagulation treatment. Such association has not been previously reported.     

视网膜脱离伴脉络膜脱离的临床分析

伴脉络膜脱离的视网膜脱离发病占同期视网膜脱离的４．１５％。分析住院手术１３５眼，总痊愈率为６５．９３％与同期不含脉络脱离的视网膜脱离成功率相比，复位率低且明显差异（Ｐ〈０．０１），将１３５例脉络膜脱离分为花边，半月，球形三型，花边型组手术成功率较高，放视网膜下液有很高的意外率，封闭了裂孔，可以完成环扎术，不放水更有利。对注气要慎重，术前术后要早用、用足激素，同足激素，同时尽早手术以提高成功率。     

Choroidal and Retinal Thickness and Axial Eye Elongation in Chinese Junior Students

PurposeTo explore the associations between macular choroidal and retinal thickness and axial elongation in non-myopic and myopic junior students.MethodsIn this school-based longitudinal observational study, axial length was measured by optical low-coherence reflectometry, and choroidal thickness and retinal thickness were measured by spectral-domain optical coherence tomography. Myopia was defined as non-cycloplegic objective spherical equivalent refraction ≤ −0.50 diopters. Structural equation modeling and multiple linear regression models were used to analyze the associations between baseline choroidal and retinal thickness with axial elongation.ResultsOut of 1307 students examined at baseline in 2017, 1197 (91.58%) returned for follow-up examination in 2018, with a median age of 12.00 years (interquartile range [IQR], 1.00) and included 667 boys (55.72%). Within a 1-year period, the median axial elongation of right eyes was 230 µm (IQR, 180) in boys and 200 µm (IQR, 160) in girls (P = 0.032). The thinner temporal choroidal thickness was associated with greater 1-year axial elongation only in myopic students (β, −0.20; 95% confidence interval [CI], −0.37, −0.03), the thinner temporal retinal thickness was associated with greater 1-year axial elongation in both non-myopic (β, −2.67; 95% CI, −4.52, −0.82) and myopic (β, −0.99; 95% CI, −1.68, −0.30) students, after adjustment for sex, age, and height. Subfoveal and nasal choroidal and retinal thickness were not significantly associated with axial elongation in either non-myopic or myopic students.ConclusionsA thinner temporal choroid at age 12 years may predict greater 1-year axial elongation in myopic students, and a thinner temporal retina may predict greater 1-year axial elongation in both non-myopic and myopic students. This finding may help to identify children at risk and control axial elongation with potential preventive strategies.     

Retinal and Choroidal Thickness in Patients with Uveitis

Purpose: To study retinal thickness (RT) and choroidal thickness (CT) in patients with inactive uveitis. We also investigated the correlation between RT and CT and the duration and frequency of inflammation and visual acuity in patients with inactive uveitis.

Methods: One-hundred and forty-eight eyes from 97 patients (mean age 51.0 ± 15.7 years) and 98 eyes from 55 normal subjects (mean age 59.3 ± 14.4 years) were studied. Routine ophthalmic examination included spectral-domain optical coherence tomography with enhanced depth imaging of the retina and choroid. CT was measured from the outer border of the retinal pigment epithelium to the inner scleral border at 500-µm intervals of the horizontal section between 2.5 mm temporal and 2.5 mm nasal to the fovea. RT was measured between the inner limiting membrane and the retinal pigment epithelium.

Results: Mean subfoveal RT did not differ significantly between uveitis patients and controls. Mean CT at multiple locations was significantly lower in patients with uveitis compared to normal subjects; this difference was most significant at the fovea (uveitis group, 229 ± 85 µm vs. control group, 276 ± 74 µm; p < 0.001). Only CT was associated with duration and frequency of inflammation in patients with anterior uveitis (r = –0.298, p = 0.008; r = –0.349, p = 0.002, respectively).

Conclusion: CT is reduced in patients with inactive uveitis and is associated with disease duration and frequency whereas RT does not seem to be affected by disease processes.     

Current Stem-Cell Approaches for the Treatment of Inherited Retinal Degenerations

ABSTRACT

Stem cells provide a promising new therapeutic approach for the treatment of multiple acquired and inherited retinal conditions. While to date, there have been numerous clinical trials examining the ability of stem cells to treat the geographic atrophy found in advanced non-neovascular age-related macular degeneration, fewer clinical trials have specifically examined stem-cell therapy for inherited retinal disease. Moreover, it remains to be seen if human stem cells will be able to regenerate the lost retinal cell populations that represent a final common pathway for most of the inherited retinal diseases, or if stem cells will secrete a neuroprotective paracrine factor that will delay progression of these diseases. Here, we will review a number of the current clinical trials, either completed or in process, that have been designed to specifically treat inherited retinal conditions. There was considerable initial concern that using human stem cells as therapeutic agents might have the potential to form benign tumors or trigger an immune response that would have deleterious effects on the patient’s retina. Currently, the majority of the clinical trials reviewed share the conclusion that intraocular stem-cell approach is generally well tolerated and safe for patients. While there are some efficacy data that have been published for a few of the reviewed trials, none of the completed studies have been empowered to demonstrate statistically significant efficacy in humans.     

Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Purpose: To report long-term results of photodynamic therapy (PDT) in young patients affected by Best vitelliform macular dystrophy (VMD) complicated by choroidal neovascularization (CNV).

Methods: We evaluated a group of 30 VMD patients with confirmed mutations in the BEST1 gene. Five of these patients had been diagnosed with CNV when younger than 15 years of age and three of them were treated by PDT. After the treatment they were followed for an average period of 77 months (range 62–99).

Results: In all the treated eyes visual acuity was stable during the first year of follow-up and then slowly improved even some years after the treatment. The improvement in visual acuity was associated with the development of fibrous tissue in the macula.

Conclusions: PDT was a safe procedure in our series of pediatric patients with VMD complicated by CNV. It was followed by a CNV regression and a consequent improvement in visual acuity which continued to progress even several years after the treatment.     

Massive Exudative Retinal and Choroidal Detachments Following Scleral Buckling Surgery

Three aphakic male patients underwent successful scleral buckling surgery for unilateral rhegmatogenous retinal detachment. Within a two-week postoperative period, each developed severe ocular pain with massive exudative retinal and choroidal detachments resembling recurrent rhegmatogenous or traction retinal detachment or implant infection. Systemic prednisone therapy resulted in prompt resolution of ocular pain and reabsorption of subretinal and suprachoroidal fluid. It is important to recognize this uncommon postoperative syndrome so that proper medical therapy may be initiated and unnecessary additional retinal or vitreous surgery can be avoided.     

Retinal capillaritis in a CRB1-associated retinal dystrophy

Purpose: To report a case of CRB1-associated retinal dystrophy characterized by vitritis, retinal capillaritis, and cystoid macular edema (CME).

Methods: A case report.

Results: An 8-year-old boy was diagnosed with intermediate uveitis and treated with corticosteroids. He was subsequently diagnosed with retinal dystrophy and found to have two CRB1 mutations.

Conclusions: Retinal capillaritis, vitritis, and CME could be inflammatory features of CRB1 retinal dystrophy in our young patient.     

Prevalence of Generalized Retinal Dystrophy in Denmark

Purpose: Generalized retinal dystrophy is a frequent cause of visual impairment and blindness in younger individuals and a subject of new clinical intervention trials. Nonetheless, there are few nation-wide population-based epidemiological data of generalized retinal dystrophy. The purpose of this study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in the Danish population.

Methods: A population-based cross-sectional study with data from the Danish Retinitis Pigmentosa Registry that comprises all patients in Denmark with generalized retinal and chorioretinal dystrophies from the 19th century to the present. Among 3076 registered cases, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Demographic data on the Danish population were retrieved from Statistics Denmark.

Results: Of the 5,602,628 Danish citizens on January 1, 2013, 1622 patients were registered as having a generalized retinal dystrophy and were alive and living in Denmark, corresponding to a prevalence of 1:3,454. In 28% of cases the eye condition was part of a syndrome, while the remaining 72% had eye disease only. Aside from simplex cases (45%), the most common hereditary pattern was autosomal recessive (23%).

Conclusion: This epidemiological survey demonstrates that the prevalence of generalized retinal dystrophy in the Danish population is 1:3454. Many of the dystrophies are the subjects of clinical intervention trials, and nation-wide epidemiological data can help assess the burden of the disease and the future need for treatment.     

The dilemma of the late-onset “Dystrophy”

A case of late-onset (age 51) visual loss and night-blindness is presented to illustrate the challenges of diagnosis. This patient had anti-enolase antibodies, and demonstrates the importance of auto-immune retinopathy as a potential cause of late-onset retinal “dystrophy.”     

Systemic Diseases Associated with Retinal Dystrophies

Abstract

Inherited retinal degeneration (IRD) may occur in isolation or as part of a multi-systemic condition. Ocular manifestations may be the presenting symptom of a syndromic disease and can include retinitis pigmentosa, cone-rod dystrophy, or maculopathy. Alternatively, patients affected with syndromic disease may already have other systemic manifestations at the time retinal disease is diagnosed. Some of these systemic diseases can cause significant morbidity. Here, we review several of these syndromic IRDs and their underlying genetic causes. Early recognition and referral for systemic evaluation and surveillance may lead to early intervention and an improved outcome. Obtaining a molecular diagnosis can be beneficial in securing a definitive diagnosis, especially in cases with atypical presentations. A genetic diagnosis may also be informative with regard to prognosis and potential therapies. Effective management and rehabilitation for patients with syndromic retinal dystrophy requires a comprehensive genetic-based team approach involving patients, family members, ophthalmologists, primary care physicians, and geneticists.     

Focal cone ERGs of rhodopsin Pro347Leu transgenic rabbits

A rhodopsin P347L transgenic (Tg) rabbit, a model of retinitis pigmentosa, has been generated in our laboratory. The purpose of this study was to determine the properties of focal areas of the retina in this rabbit model during the course of retinal degeneration. To accomplish this, we recorded focal ERGs from wild-type (WT) and Tg rabbits at ages 3, 6, and 12 months. A 15° stimulus spot was used to elicit the focal ERGs from the center of the visual streak and from four surrounding areas. We found that the amplitudes of the focal cone ERG b-waves and oscillatory potentials (OPs) of the Tg rabbits in the five areas decreased progressively with increasing age and became almost non-recordable at 12 months. There were no significant regional differences in the b-waves of Tg rabbits recorded from the 5 areas. The amplitudes of the OPs were better preserved than the b-waves and the OPs/b-wave ratio was higher than that in WT rabbits at every recording area. The summed OPs amplitudes, which most likely originate from the amacrine and/or ganglion cells, recorded from the area superior to the optic disc was significantly larger than that from other areas at 3- and 6-months-old. This indicated that the inner retinal neurons were not altered equally after photoreceptor degeneration in this rabbit model.     

Effects of Monocular Light Deprivation on the Diurnal Rhythms in Retinal and Choroidal Thickness

PurposeTo determine the effects of monocular light deprivation on diurnal rhythms in retinal and choroidal thickness.MethodsTwenty participants, ages 22 to 45 years, underwent spectral domain optical coherence tomography imaging every three hours, from 8 AM to 8 PM, on two consecutive days. Participants wore an eye patch over the left eye starting at bedtime of day 1 until the end of the last measurement on day 2. Choroidal, total retinal, photoreceptor outer segment + retinal pigment epithelium (RPE), and photoreceptor inner segment thicknesses were determined.ResultsFor both eyes, significant diurnal variations were observed in choroidal, total retinal, outer segment + RPE, and inner segment thickness (P < 0.001). For light-deprived eyes, choroid diurnal variation persisted, although the choroid was significantly thinner at 8 AM and 11 AM (P < 0.01) on day 2 compared to day 1. On the other hand, diurnal variations in retinal thickness were eliminated in the light-deprived eye on day 2 when the eye was patched (P > 0.05). Total retinal and inner segment thicknesses significantly decreased (P < 0.001) and outer segment + RPE thickness significantly increased (P < 0.05) on day 2 compared to day 1.ConclusionsBlocking light exposure in one eye abolished the rhythms in retinal thickness, but not in choroidal thickness, of the deprived eye. Findings suggest that the rhythms in retinal thickness are, at least in part, driven by light exposure, whereas the rhythm in choroidal thickness is not impacted by short-term light deprivation.     

Prevalence and Diagnostic Spectrum of Generalized Retinal Dystrophy in Danish Children

Abstract

Purpose: The aim of the present population-based cross-sectional study was to examine the prevalence and diagnostic spectrum of generalized retinal dystrophy in Danish children.

Methods: The Danish Registry for the Blind and Partially Sighted Children comprises all visually impaired children residing in Denmark aged 0–17 years. Among registered children, the primary diagnosis of generalized retinal dystrophy was assessed by chart review, including fundus photographs and electroretinograms. Age-specific data for live children in Denmark were retrieved from Statistics Denmark.

Results: Of the 1,204,235 Danish children aged 0–17 years on 1 October 2011, 2017 children were registered as visually impaired. Of these, 153 cases were attributed to generalized retinal dystrophy, corresponding to a prevalence of 13 per 100,000 children. The age-specific prevalence increased prominently with increasing age. In 43% of the children the eye condition was part of a syndrome, while the remaining 57% had eye disease only. The most common hereditary pattern was autosomal recessive (99 children, 66%).

Conclusions: This epidemiological survey demonstrates that the prevalence of generalized retinal dystrophy in Danish children is 13 per 100,000, which is a considerable increase compared to the 9.8 per 100,000 reported by Rosenberg in 1988. The prevalence of Leber congenital amaurosis, Usher syndrome, and Bardet-Biedl syndrome doubled, which may be explained by a documented history of consanguinity in more than one third of the children. Many of the dystrophies are the subject of clinical intervention trials, and nation-wide epidemiological data can help assess the future need for treatment.     

Recurrence of SRF Post Intravitreal Ranibizumab for Pediatric Choroidal Neovascularisation Secondary to Best Disease

ABSTRACT

We present five cases of choroidal neovascularization secondary to pediatric Best disease which were treated with two different doses of intravitreal ranibizumab. Optical coherence tomography was used for monitoring of the cases. Three cases had subretinal fibrosis at presentation and two out of these 3 cases required repeat intravitreal ranibizumab at one year follow-up due to recurrence of subfoveal subretinal fluid.