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The internal limiting membrane located at vitreoretinal interface is formed by the contiguous basement membranes of Müller cells.Nowadays, vitrectomy combined with internal limiting membrane peeling has been widely used in many operations involving macular area.Although its clinical efficacy and safety have been demonstrated, it lacks the necessary histological support.At the same time, many studies have shown that the internal limiting membrane plays different roles in the occurrence of different diseases.Current studies have found that the proliferation of inflammatory cells, glial cells and vitreous cells leads to the physiological dysfunction of the vitreoretinal interface, and the internal limiting membrane can also become a scaffold for the proliferation of myofibroblasts, which will lead to the occurrence of macular diseases.This article reviewed the histological research of internal limiting membrane in terms of diabetic retinopathy, idiopathic macular hole and idiopathic macular epiretinal membrane, hoping to better understand the internal limiting membrane under pathological conditions and to confirm the safety and necessity of internal limiting membrane peeling from ultrastructure.
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The continuous pandemic coronavirus disease 2019(COVID-19)caused by severe acute respiratory syndrome coronavirus-2(SARS-CoV-2)is a serious threat to human life and health because of high infectious pathogenicity, and it also has posed a new challenge to the current medical model. Many literatures have shown that these changes range from the more common ocular surface diseases such as inflammation of the cornea, conjunctiva, and sclera, to the relatively rare paracentral acute middle maculopathy and acute macular neuroretinopathy. For patients with ocular symptoms as the first or accompanying symptoms of SARS-CoV-2 infection, how to identify the correlation between ocular manifestations and SARS-CoV-2 infection is undoubtedly a serious challenge for ophthalmologists. In this review, the ocular pathology caused by both SARS-CoV-2 infection and vaccination was discussed, covering pathological changes in the ocular surface, uvea, retina and macula, and cranial nerves.
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COVID-19 associated fundus lesions are mostly vascular occlusion or inflammatory changes. The affected vessels include both retinal macrovessels and microvessels, and the inflammatory changes are mainly autoimmune lesions. Clinically, the different lesions present as various fundus diseases, with varying degrees of impact on visual function. The mechanism of these lesions is considered to be related to direct injury of SARS-CoV-2, abnormal coagulation or inflammatory response caused by SARS-CoV-2. Awareness of fundus lesions associated to COVID-19 is helpful to figure out the pathophysiological mechanism of COVID-19 and promote in-depth studies for a deeper and complete understanding of the occurrence and full impact of COVID-19, emphasizing the importance of early prevention and control of the disease, and highlighting the significance of early intervention of the fundus diseases caused by COVID-19.
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ABSTRACT The most frequently reported ophthalmic manifestation of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is conjunctivitis. We have described a case of Purtscher-like retinopathy in a patient with severe coronavirus disease 2019 (COVID-19)-associated coagulopathy. A young woman with multiple comorbidities was admitted for COVID-19-related acute respiratory distress syndrome. Her course was complicated by fungemia. Ophthalmic examination revealed bilateral posterior pole, intraretinal lesions and fluconazole was added for presumed fungal retinitis. At 1-week follow-up, widespread peripapillary cotton-wool spots and hemorrhages suggestive of Purtscher-like retinopathy were observed. The levels of D-dimers, fibrinogen, and C-reactive protein were markedly elevated prior to our consultation, indicating preceding prothrombotic and pro-inflammatory states. Subsequent venous duplex revealed deep venous thrombosis in the right subclavian and internal jugular veins. Von Willebrand factor indices were markedly elevated, suggesting severe COVID-19-associated coagulopathy. Purtscher-like retinopathy, a rare occlusive microangiopathy has been described in various pro-inflammatory and prothrombotic conditions. To the best of our knowledge, this is the first report of Purtscher-like retinopathy in COVID-19-associated coagulopathy.
RESUMO A manifestação oftálmica mais frequentemente relatada da infecção por SARS-CoV-2 é a conjuntivite. Trata-se de estudo de caso de retinopatia tipo Purtscher em uma paciente com coagulopatia grave associada ao COVID-19. Uma jovem com múltiplas comorbidades foi admitida por síndrome do desconforto respiratório agudo relacionado ao COVID-19. Seu quadro foi complicado pela fungemia. O exame oftálmico revelou pólo posterior bilateral, lesões intraretinianas e o fluconazol foi adicionado para tratar a retinite fúngica presumida. No decorrer de uma semana, manchas largas peripapilares de algodão e hemorragias sugestivas de retinopatia tipo Purtscher foram observadas. Os dímeros D, o fibrinogênio e a proteína c-reativa estavam acentuadamente elevados antes da nossa consulta, indicando um estado pró-trombótico e pró-inflamatório precedente. O duplex venoso subsequente revelou trombose venosa profunda nas veias subclávia direita e jugular interna. Os índices de fatores von Willebrand estavam marcadamente elevados, sugerindo coagulopatia grave associada ao COVID-19. A retinopatia tipo Purtscher, uma microangiopatia oclusiva rara foi descrita em várias condições pró-inflamatórias e pró-trombóticas. Para nosso conhecimento, este é o primeiro relatório de retinopatia tipo Purtscher com coagulopatia associada ao COVID-19.
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@#Aquaporins(AQPs)is a family of transmembrane channins with low activation energy, high selectivity and rapid transport of water molecules, widely expressed in eye tissues. It was found that AQPs has physiological functions in eye tissue including maintaining the internal lens circulation homeostasis, participating in atrial aqueous circulation, mediating retinal signaling and promoting damage repair. Mutations or abnormal function of AQPs can lead to the occurrence of various ophthalmic diseases. If the expression and function of AQPs can be changed by using certain drugs or technical means, it is expected to become a new target for the treatment of ophthalmic diseases in the future.
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Retinal leakage is not only a very common pathological phenomenon but also a common pathological feature of many retinal diseases, its pathogenesis is very complex. The application of ultra-wide-angle fluorescein angiography is one of the main means to observe and evaluate retinal leakage. Leakage index is a new index for evaluating retinal leakage. Studies have explored its correlation in diabetic retinopathy, retinal vein occlusion, uveitis and other diseases, evaluating treatment effects and predicting prognosis. However, the number of related studies is small and the conclusions are inconsistent. In the future, it is still necessary to further advance the quantitative analysis of leakage, the application of leakage in more diseases, and the clinical trials of leakage rate to explore its role in predicting and evaluating treatment effects in retinal diseases.
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Objective:To investigate the features of multicolor imaging in the macular region of central serous chorioretinopathy (CSC) patients.Methods:A cross-sectional study was conducted.Thirty-four acute CSC patients (34 eyes) treated in Renmin Hospital of Wuhan University from August 2017 to January 2018 were enrolled.Among the 34 subjects, there were 21 males (21 eyes) and 13 females (13 eyes). The subjects were 26 to 61 years old, with an average age of (37.41±9.35) years.The course of the disease was 5 to 45 days, with an average course of (12.00±2.29) days.All the subjects were examined by color fundus photography, fluorescein angiography (FFA), indocyanine green angiography (ICGA), multicolor imaging, spectral-domain optical coherence tomography (SD-OCT). The image features of each patient were compared and analyzed.The diagnostic accordance rate for leakage point and serous retinal neuroepithelial detachment of multicolor imaging and color fundus photography was calculated according to FFA/ICGA and OCT.This study protocol adhered to the Declaration of Helsinki and was approved by an Ethics Committee of Renmin Hospital of Wuhan University (No.WDRY2019-K037).Results:The serous retinal detachment region showed green light reflection area with clear boundary in 33 eyes (97.06%) in the standard as well as blue and green enhanced multicolor image, with not clear boundary in 1 eye (2.94%). The serous retinal detachment region showed weakly reflective area in 17 eyes (50%) in blue reflectance image, showed weak reflection with clear boundary in 32 eyes (94.11%) in green reflectance image, showed weakly reflection with clear boundary in 33 eyes (97.06%) in infrared reflectance image.The fluorescein leakage point in FFA image was found micro retinal pigment epithelium detachment (PED) in 19 eyes (55.88%), rough light band of retinal pigment epithelium (RPE) in 12 eyes (35.29%), and large PED in 3 eyes (8.82%) in SD-OCT image.The RPE leakage showed red mottled changes in the area of neuroepithelial detachment in 29 eyes (85.29%) in the standard as well as blue and green enhanced multicolor images, presented strong reflection spots in blue reflectance images in 2 eyes (5.88%), showed strong reflective spots in green reflectance in 5 eyes (14.70%), showed strong reflection spot in the weakly reflective area in 33 eyes (97.06%) in infrared reflectance images.Taking FFA/ICGA and OCT as the gold standard, the diagnostic accordance rate of standard multicolor, blue and green enhanced multicolor and infrared reflectance images for serous retinal neuroepithelial detachment and leakage points was higher than that of color fundus photography, and the differences were statistically significant (all at P<0.05). Conclusions:Standard multicolor, blue and green enhanced multicolor and infrared reflectance images can reflect the leakage point and retinal neuroepithelial detachment of acute CSC.Green reflectance image can show serous retinal neuroepithelial detachment of acute CSC.Multicolor imaging can be used as the auxiliary diagnosis method of acute CSC.
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@#Retinol dehydrogenase 5(RDH5)is an NAD(H)retina-dependent oxidase. As a key enzyme in the visual cycle, it can initiate a series of enzymatic reactions to produce visual pigment, so as to achieve the conversion of photoelectric signal and participate in the formation of retinoic acid, <i>etc</i>. RDH5 mutation can greatly reduce the enzyme activity and even cause severe hereditary retinopathy, such as fundus albipunctatus, retinitis pigmentosa, and retinitis punctate albescens. In this paper, the research progress of RDH5 in visual cycle and hereditary retinal diseases in recent years is reviewed.
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@#The retinal disease is one of the most important challenges in the field of ophthalmology. Its pathogenesis is complex and has a great damage to visual functional. It is the main cause of severe human vision. In recent years, the development of artificial intelligence(AI)is a powerful tool for analytics of retinal diseases. The application of AI to common retinal diseases mainly includes early screening, diagnostic grading, efficacy determination, treatment suggestions and prognostic development. However, any technology clinical application has its limitations. This article will be reviewed for the application of AI in retinal diseases.
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@#AIM: To investigate the change of macular pigment optical density(MPOD)in the patients of obstructive sleep apnea-hypopnea syndrome(OSAHS). <p>METHODS: Totally 70 OSAHS patients as observation group and 32 healthy subjects as control group with their right eyes were enrolled from Chongqing Emergency Medical Center during January to December of 2019. All the subjects used Visucam 200 to measure the mean/max MPOD. <p>RESULTS: Both mean/max MPOD(0.0916±0.0149, 0.2675±0.0419Log unit)of OSAHS group are significantly lower than the control group(0.1193±0.0159, 0.3235±0.0400Log unit, <i>P</i><0.001).There are significant difference of mean/max MPOD between mild(<i>n</i>=12)/moderate(<i>n</i>=17)/severe(<i>n</i>=41)groups divided by AHI(<i>P</i><0.001). The increasing severity of OSAHS lead to lower mean/max MPOD.Furthermore there is negative correlation between mean/max MPOD and AHI(<i>r</i>=-0.685, -0.492; <i>P</i><0.001).<p>CONCLUSION: Our study results suggest that the mean/max MPOD were reduced in the patients of OSAHS. Moreover, the decreased degree of mean/max MPOD is positively related to the severity of OSAHS. It shows that the MPOD of OSAHS have already changed before they feel the significant syndrome. The reducing of MPOD may cause dysfunction of macular and finally rise up to macular disease.
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@#AIM: To evaluate the outcomes of patients operated for retinal detachment by scleral buckle technique done by trainee doctors pursuing postgraduate course in ophthalmology.<p>METHODS: This study was a non-comparative retrospective case series to evaluate the demography, clinical features and outcomes of patients underwent rhegmatogenous retinal detachment(RRD)repaired by scleral buckle technique from July 2017 to February 2018 at a tertiary care center in India. Records of all these patients were screened. Statistical analyses were performed and using Fisher's exact test, Mann-Whitney test and Nominal Logistic regression.<p>RESULTS: Totally of 41 patients were included out of which, 32(78%)were males and 9(22%)were females. In our study primary anatomical success rate was 95%, with significant visual gain. Postoperative complications were raised intraocular pressure(<i>n</i>=2), new breaks(<i>n</i>=2)and re-detachment in 2 patients which was successfully managed by pars plana vitrectomy(PPV)with internal tamponade and laser.<p>CONCLUSION: The study showed that scleral buckle surgeries done by trainee doctors under supervision can achieve a high success rate in patients of RRD both in terms of postoperative anatomical success, visual acuity and complication rates. Thus, scleral buckle surgery can be an acceptable primary procedure for trainee doctors for management of RRD in selected cases despite the various treatment options now available.
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Objective@#To analysis the genotype and phenotype of hereditary retinal diseases (HRD) which are easily misdiagnosed as amblyopia.@*Methods@#A case-control study was designed.The patients with HRD who were misdiagnosed as amblyopia in Ningxia Eye Hospital from January to December, 2017 were recruited in this study.The clinical medical history and ophthalmic examinations of patients and their family members were recorded, and family maps were drawed.Peripheral venous blood (5 ml) from each patient and their family members was collected, and genomic DNA was extract.The target sequence capture sequencing technology was used to detect the genetic testing in serum of the patient, and the pathogenic mutation site was determined by Sanger sequencing and co-segregation verification.Genetic testing results with related ophthalmic examination were considered together to analyze the relationship between genotype and phenotype.This study followed the Declaration of Helsinki.Written informed consent was obtained from each subject or the guardian prior to entering study cohort.This study protocol was approved by Ethic Committee of People's Hospital of Ningxia Hui Autonomous Region Hospital (No.2016018).@*Results@#Twenty-two patients with HRD were enrolled in the study, including 10 Stargardt disease (STGD), 8 cases of cone dystrophy (COD) or cone and rod dystrophy (CRD), and 5 cases of familial exudative vitreoretinopathy(FEVER). Nine patients were detected to have pathogenic mutations, and the positive rate was 40.9%, of which 4 patients with STGD carried mutation gene, including ABCA4 and PROM1 genes; mutations in RPGR, PROM1 and GUCY2D genes were detected in 3 patients with COD or CRD; TSPAN12 gene mutation were detected in 2 patients with FEVER.Eleven mutation sites were detected, 4 of which were newly discovered mutation sites.All of the patients in 9 HRD families developed symptoms during adolescence.At the early stage of the disease, there was severe damage to the eyesight, but the fundus was normal or only slightly abnormal.As the disease progressed, the fundus changes were characteristic, and there were clinical phenotypic overlap between some diseases.All family genotypes and clinical phenotypes were co-separated.@*Conclusions@#The main pathogenic gene of STGD is ABCA4 gene, and PROM1 gene can also cause partial STGD; COD and CRD have similar clinical manifestations, and the pathogenic genes also cross each other, and the genetic pattern is diverse; FEVER caused by mutation of TSPAN12 gene is autosomal dominant, and the mutation type has missense mutation and frameshift mutation.HRDs lack typical early clinical signs, and genetic diagnosis can provide pre-symptomatic diagnosis.
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@#Leber's congenital amaurosis(LCA)is a genetic eye disease that can cause blindness. Infants with LCA may have a severe low vision or loss of vision at the early stage. The LCA2 type of this disease is related to RPE65 mutation. According to previous studies, there is no effective treatment for genetic retinal diseases including LCA2. In recent years, with the advances in gene therapy technology, great progress in the treatment of genetic retinal diseases has been made, among which the most successful one is the gene therapy of LCA2. This paper briefly introduces the development of the gene therapy of LCA2, and reviews the correlation between age and injection type, dosage, injection method, measuring method as well as therapeutic effect and the stability of therapeutic effect in previous clinic trials, which provides reference and clinical treatment experience for the clinical application of the gene therapy of LCA2 in China.
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BACKGROUND: Because of genetically and phenotypically heterogenous features, identification of causative genes for inherited retinal diseases (IRD) is essential for diagnosis and treatment in coming gene therapy era. To date, there are no large-scale data of the genes responsible for IRD in Korea. The aim of this study was to identify the distribution of genetic defects in IRD patients in Korea. METHODS: Medical records and DNA samples from 86 clinically diagnosed IRD patients were consecutively collected between July 2011 and May 2015. We applied the next-generation sequencing strategy (gene panel) for screening 204 known pathogenic genes associated with IRD. RESULTS: Molecular diagnoses were made in 38/86 (44.2%) IRD patients: 18/44 (40.9%) retinitis pigmentosa (RP), 8/22 (36.4%) cone dystrophy, 6/7 (85.7%) Stargardt disease, 1/1 (100%) Best disease, 1/1 (100%) Bardet-Biedl syndrome, 1/1 (100%) congenital stationary night blindness, 1/1 (100%) choroideremia, and 2/8 (25%) other macular dystrophies. ABCA4 was the most common causative gene associated with IRD and was responsible for causing Stargardt disease (n = 6), RP (n = 1), and cone dystrophy (n = 1). In particular, mutations in EYS were found in 4 of 14 autosomal recessive RP (29%). All cases of Stargardt disease had a mutation in the ABCA4 gene with an autosomal recessive trait. CONCLUSION: This study provided the distribution of genetic mutations responsible for causing IRD in the Korean patients. This data will serve as a reference for future genetic screening and treatment for Korean IRD patients.
Subject(s)
Humans , Bardet-Biedl Syndrome , Choroideremia , Diagnosis , DNA , Genetic Testing , Genetic Therapy , Korea , Macular Degeneration , Mass Screening , Medical Records , Night Blindness , Retinal Diseases , Retinaldehyde , Retinitis Pigmentosa , Vitelliform Macular DystrophyABSTRACT
RESUMEN Se informa el caso de una paciente con enfermedad de Gaucher (EG) tipo 3b con mutación homocigota en el gen GBA (c.1448T>C p.L483P) (L444P). Se describen los hallazgos oculares característicos de esta mutación, que incluyen condensaciones vítreas y edema macular. Hasta donde sabemos, es el primer caso informado en Colombia con estas características. Se presenta además una revisión sobre las manifestaciones oculares de esta enfermedad.
SUMMARY We report the case of a patient with Gaucher disease (GD) type 3b, with a homozygous GBA gene mutation (c.1448T > C p.L483P) (L444P). Ocular findings characteristic of this mutation are described, including vitreous condensation and macular edema. To our knowledge this is the first case reported in Colombia with these characteristics. A review of the ocular manifestations of this disease is also presented.
RESUMO Se informa o caso de uma paciente com doença de Gaucher (EG) tipo 3b com mutação homozigoto no gene GBA (c.1448T>C p.L483P) (L444P). Se descrevem as descobertas oculares características desta mutação, que incluem condensações vítreas e edema macular. Até onde sabemos, é o primeiro caso informado na Colômbia com estas características. Se apresenta ademais uma revisão sobre as manifestações oculares desta doença.
Subject(s)
Humans , Female , Adolescent , Retinal Diseases , Gaucher Disease , Eye ManifestationsABSTRACT
Induced pluripotent stem cells (iPSCs) are a type of pluripotent stem cells that can be generated from adult somatic cells.They have similar characteristics and function to embryonic stem cells (ESCs).Over the past decade,iPSCs were widely concerned in regenerative medicine and stem cell field.Especially the patient specific iPSCs have several advantages over ESCs,such as convenient source,do not exist immune rejection and ethical issues,even keep certain individual genotype.At present,tremendous progress have been made about the application of iPSCs in a variety of retinal diseases.Here,this article reviews pluripotent stem cell sources of RPE,photoreceptors and retinal ganglion cells and current transplantation strategies,the safety problems and prospects.
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Background Hereditary retinal diseases (HRDs) are a group of retinal degenerative diseases with significant genetic and clinical heterogeneities.Traditional techniques are challenging for detection of pathogenic mutations.Objective This study was to identify the diseasing-causal genes in 20 Chinese families with a variety of HRDs.Methods Family histories and ophthalmic examinations were obtained from all participants in 20 sporadic families.Targeted sequence capture array technique with next-generation sequencing (NGS) was performed to detect pathogenic mutations in 232 identified genes associated with HRDs.Variants detected by NGS were filtered by bioinformatic analysis HRDs.Genotype-phenotype correlation was also assessed.Results We identified 11 patients with pathogenic mutations,including 8 compound heterozygous mutations and 3 homozygous mutations,which were not yet reported.These findings showed genetic diagnoses in 11 of 20 patients,with the positive rate of 55％.Among them,6 patients were autosomal recessive inheritance and 5 were unspecific.Identification of different mutations and divergent phenotypes revealed 5 patients were affected with cone-rod dystrophy,3 patients with Leber congenital amaurosis,1 patient with congenital stationary night blindness,1 patient with Best vitelliform macular dystrophy and 1 patient with Stargardt disease.Conclusions Targeted NGS is an effective approach for the genetic diagnoses of HRDs.These findings provide insights into understanding the genotype-phenotype correlations in HRDs.
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The system of clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated nuclease (Cas) 9 is an effective tool for revising the genome with great accuracy,and boost the advances in life science.By employing this system,we discover the regulation role of key gene during retina development and correct the abnormal mutation of these genes.In this paper,we summarize CRISPR-based technologies that enable mammalian genome editing and their various applications.And CRISPR/Cas9 may be a promising tool to disclosure the mechanism of retinal diseases so as to develop novel treatment for patients with retinitis pigmentosa.
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The system of clustered regularly interspaced short palindromic repeats (CRISPR) and CRISPR-associated nuclease (Cas) 9 is an effective tool for revising the genome with great accuracy,and boost the advances in life science.By employing this system,we discover the regulation role of key gene during retina development and correct the abnormal mutation of these genes.In this paper,we summarize CRISPR-based technologies that enable mammalian genome editing and their various applications.And CRISPR/Cas9 may be a promising tool to disclosure the mechanism of retinal diseases so as to develop novel treatment for patients with retinitis pigmentosa.
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@#At present, it is a problem to interpret and evaluate the relation of the damage and the death of photoreceptor cells with visual function in the study of retinal diseases. In recent years, the application of visual head tracking in rodents makes it possible to evaluate the relation of the damage and the death of photoreceptor cells with visual function. Behavioral evaluation, of which the relative study has made some progress, is predominate in continuous evaluation of animal's visual function. According to present researches of optkinetic testing on rodent animal with retinal diseases, the principles, the innovations, the achievements and the problems in application of the equipment in optkinetic response research are summarized to provide evidence when testing methods are being chosen in the study of animals with retinal diseases.