Relationship of miR-126 and miR-325 in serum and vitreous with the severity of proliferative vitreoretinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To explore the relationship of miR-126 and miR-325 in serum and vitreous with the severity of proliferative vitreoretinopathy(PVR).METHODS: A total of 100 cases(100 eyes)with PVR who were treated in our hospital from October 2019 to October 2022 were selected and retrospectively studied. They were divided into a mild group(42 eyes)and a severe group(58 eyes)according to the degree of retinopathy, and another 30 cases(30 eyes)that underwent vitrectomy without retinopathy due to eye trauma in our hospital during the same period were selected as the control group. Fluorescence quantitative PCR was used to detect the expression levels of miR-126 and miR-325 in serum and vitreous; ELISA was used to detect the levels of transforming growth factor β(TGF-β), platelet-derived growth factor(PDGF), vascular endothelial growth factor(VEGF), and tumor necrosis factor α(TNF-α)in serum and vitreous; and Pearson's method was used to analyze the correlation between the serum and vitreous levels of miR-126 and miR-325 correlated with the levels of TGF-β, PDGF, VEGF, and TNF-α; Logistic multifactorial analysis was used to analyze the influencing factors for the occurrence of severe PVR.RESULTS: Compared with the control group, miR-126 levels in serum and vitreous of PVR patients were decreased and lower in the severe PVR group than in the mild PVR group(both P<0.05); miR-325 levels were increased and higher in the severe PVR group than in the mild PVR group(both P<0.05). TGF-β, PDGF, VEGF, and TNF-α levels in serum and vitreous were increased in the severe PVR group compared to the mild PVR group(all P<0.05). The miR-126 levels in serum and vitreous of patients with PVR were negatively correlated with miR-325, TGF-β, VEGF, TNF-α, and PDGF levels(all P<0.05), and miR-325 was positively correlated with TGF-β, VEGF, TNF-α, and PDGF levels(all P<0.05). Logistic regression analysis showed that miR-325, TGF-β, PDGF, and TNF-α were all independent risk factors for the development of severe PVR in serum and vitreous, and miR-126 was an independent protective factor for the development of severe PVR in serum and vitreous(P<0.05).CONCLUSION: With the aggravation of PVR, miR-126 expression in serum and vitreous decreased while miR-325 expression increased and correlated with TGF-β, TNF-α, VEGF, and PDGF.

Necrosis retinal aguda. Dos casos clínicos / Acute retinal necrosis. A report of two clinical cases

La necrosis retinal aguda es una afección grave que amenaza la visión. Es frecuente en adultos, tanto inmunocompetentes como inmunocomprometidos. Se presentan dos pacientes, uno de 38 años, con antecedentes de salud anterior que acude a consulta con síntomas y signos de necrosis retinal aguda en el ojo izquierdo, la que fue diagnosticada luego; y otro de 48 años de edad con antecedentes de infección por herpes zóster, tres meses antes de los síntomas oculares, que concluyó con igual diagnóstico. No existió evolución satisfactoria, a pesar del tratamiento adecuado, lo que demostró que independientemente de datos estadísticos y estudios realizados que demuestran lo infrecuente de esta enfermedad, se diagnosticaron dos casos en el periodo de un año, dato que nos exhorta al estudio y práctica de alternativas diagnósticas y terapéuticas para minimizar las consecuencias devastadoras de esta afección.

Acute retinal necrosis is a serious vision-threatening condition. It is common in both immunocompetent and immunocompromised adults. We present two male patients; one aged 38 years, with a previous health history who comes to consultation with symptoms and signs of acute retinal necrosis in his left eye, which was later diagnosed; and another one aged 48 years with a history of herpes zoster infection three months before the ocular symptoms, which concluded with the same diagnosis. Regardless of the statistical data and research carried out on this rare disease, there was no satisfactory evolution despite adequate treatment. Two cases were diagnosed in a period of one year, data that urges us to study and practice diagnostic and therapeutic alternatives to minimize the devastating consequences of this condition.

Research progresses on pathogenic genes and related signal pathways of familial exudative vitreoretinopathy / 中华眼底病杂志

Familial exudative vitreoretinopathy (FEVR) is a serious hereditary retinal vascular disease. The clinical manifestations vary, and the severity of the patients' condition is different. In severe cases, it may lead to bilateral blindness. The pathogenic mechanism of FEVR is also complex. At present, more than ten classical and candidate pathogenic genes have been found: NDP, FZD4, LRP5, TSPAN12, CTNNB1, KIF11, ZNF408, RCBTB1, LRP6, CTNNA1, CTNND1, JAG1, ATOH7, DLG1, DOCK6, ARHGP31 and EVR3 region. These pathogenic genes are involved in Wnt/β-catenin signaling pathway, norrin/β-catenin pathway and Notch pathway. They regulate and affect the development of retinal blood vessels, hyaloid vascular system regression, endothelial cell connections, and blood retinal barrier homeostasis, ultimately leading to the occurrence and development of FEVR disease.

The macular structure and blood flow in familial exudative vitreoretinopathy with inner retinal layer persistence / 中华眼底病杂志

Objective:To compared the changes of macular microvascular architecture in early stage familial exudative vitreoretinopathy (FEVR) patients with inner retinal layer (IRL) persistence and without IRL persistence.Methods:A retrospective clinical study. From 2017 to 2022, 94 patients with stage 1 FEVR with or without IRL residue and 45 age- and sex-matched healthy volunteers with 45 eyes (normal control group) who were confirmed by ophthalmology examination in Hangzhou Hospital of Optometry Affiliated to Wenzhou Medical University and Zhejiang Provincial People's Hospital were included in the study. According to whether there was IRL residue, the patients were divided into IRL group and non-IRL group, with 22 patients (22 eyes) and 72 patients (72 eyes), respectively. Best corrected visual acuity (BCVA) and optical coherence tomography angiography (OCTA) were performed in all eyes. Superficial vessel density (SCP) and deep vessel density (DCP) of whole image, fovea and parafovea, the area and perimeter of fovea avascular area (FAZ), A-circularity index (AI, perimeter/standard circle perimeter with equal area) and vessel density around the 300 μm width of the FAZ (FD), central macular thickness (CMT) on macular 3 mm × 3 mm scan on OCTA were measured.Results:SCP and DCP of whole image ( F=10.774, 4.583) and parafovea ( F=10.433, 3.912), CMT ( F=171.940) in IRL group and non-IRL group on macular 3 mm × 3 mm scan on OCTA were significantly lower than that in normal persons ( P<0.05). There were significant differences among three groups of the area of FAZ ( F=4.315), AI ( F=3.413), FD-300 ( F=13.592) ( P<0.05). BCVA were worst in IRL group ( P<0.05). Conclusions:Blood flow density decreased in macular area of FEVR patients. CMT is significantly thicker than normal population. The FAZ area of the foveal IRL residual eyes is small and irregular, with worse BCVA and lower macular blood density.

Clinical features and treatment of glaucoma secondary to familial exudative vitreoretinopathy / 中华眼底病杂志

Objective:To investigate the etiology, clinical features and treatment of familial exudative vitreoretinopathy (FEVR) secondary glaucoma.Methods:A retrospective clinical study. From January 1, 2016 to January 1, 2022, 15 patients (17 eyes) were diagnosed with FEVR secondary glaucoma in Beijing Tongren Hospital, Capital Medical University were included in the study. All patients underwent systematic ophthalmological evaluation. According to the patient's age, visual acuity, intraocular pressure, anterior segment, vitreous body and retina condition, the choice of translimbal lensectomy combined with vitrectomy, goniectomy, cyclophotocoagulation, intravitreal injection of anti-vascular endothelial growth factor (VEGF) treatment were chosen. The follow-up time was 3 to 37 months. The clinical characteristics of the affected eye, and the changes of intraocular pressure, anterior chamber depth and complications after surgery were observed.Results:Among the 15 patients, there were 11 males with 13 eyes, and 4 females with 4 eyes. Age was 6.14±7.37 years old. FEVR stages 2B, 3B, 4A, 4B, 5A, and 5B were 1, 1, 5, 6, 3, and 1 eye, respectively. The intraocular pressure of the affected eye was 42.74±9.06 mm Hg (1 mm Hg=0.133 kPa). All eyes had shallow anterior chamber and angle closure, anterior or posterior iris adhesions, lens opacity, retinal detachment, iris neovascularization in 4 eyes, and vitreous hemorrhage in 2 eyes. Sixteen eyes were treated with translimbal lensectomy combined with vitrectomy and goniotomy, of which 8 eyes were treated with anti-VEGF treatment; 1 eye was treated with cyclophotocoagulation combined with anti-VEGF treatment. After operation, the intraocular pressure of 16 eyes returned to normal range, and the depth of anterior chamber of 16 eyes returned to normal, and no obvious complications occurred.Conclusions:The main etiology of secondary glaucoma in FEVR is the structural and functional abnormalities of the anterior chamber and angle, which are found in the 2B and above stages of FEVR. The lensectomy and vitrectomy via limbal approach can effectively control the intraocular pressure and restore the anterior chamber, with no serious complications.

Analysis of factors affecting the clinical features of familial exudative vitreoretinopathy / 中华眼底病杂志

Objective:To observe and investigate the related factors that might affect clinical features of familial exudative vitreoretinopaty (FEVR) patients.Methods:A retrospective chart study. From January 2012 and December 2021, 42 patients with 84 eyes with a diagnosis of FEVR from Department of Ophthalmology, Peking University People's Hospital were included in the study. The patients came from 42 separate families. There were 31 males and 11 females, with an average age of first diagnosis was 16.6±33.7 months. There were 21 patients referred from other hospitals for the fundus disease found in eye screening after birth, 21 patients were first seen in our hospital. There were 4 and 38 premature and full-term infants, respectively. Two patients with a positive family history of FEVR. All patients are FEVR stages 1-5. The wide-angle digital pediatric retinal imaging system after general anesthesia for fluorescein fundus angiography (FFA) examination were performed for patients aged <5 years. If patients ≥ 5 years old, routine FFA examination was performed. Sixty-eight first-degree relatives from 28 families undergo routine fundus examinations and FFA examination. Genetic examination was performed for 26 families, including 26 probands and 57 first-degree relatives. Genetic examination were performed on gene the coreceptor of low density lipoprotein receptor-associated protein 5 ( LRP5), Wnt receptor coiled protein 4 ( FZD4), Norrie disease ( NDP), tetraporin 12 ( TSPAN12), catenin β1 ( CTNNB1) genes known to be involved in FEVR. The clinical features and the genotype of FEVR were observed in relation to the clinical phenotype. Results:Among the 42 patients, 13 patients were first observed by strabismus and nystagmus, with the median age of 12 months. Eight patients were complained non-chasing or vision-related symptoms. Among the 84 eyes, FEVR stage 1 or 2, 3 or 4, and 5 were 50 (59.5%, 50/84), 31 (36.9%, 31/84), and 3 (3.6%, 3/84) eyes, respectively. Among the 23 patients who were > 3 months at first diagnosis, 16 patients had at least one eye severer than stage 3 (69.6%, 16/23). Of the 68 first-degree relatives, 22 (32.4%, 22/68) had FEVR-like changes. Among the 26 families that underwent genetic detection, 13 families (50%, 13/26) of 16 variants of FEVR-related genes were detected, of which 10 mutations of LRP5 gene were the most common. There were 10 families with single gene mutations, including 6, 2 and 2 families of LRP5, FZD4 and CTNNB1 genes, respectively. One family of LRP5 gene mutations were compound heterozygous mutations, 1 family with LRP5 gene mutaition combined with NDP gene mutation, and 1 family with LRP5 and TSPAN12 gene mutation. Among the proband with FEVR pathogenic genes, 6 cases with similiar stage of both eyes, and 7 cases with inconsistent disease stages, and there was no obvious correlation between gene mutations and clinical phenotypes. Conclusion:In addition to the age of first diagnosis, no exact factors affecting the clinical manifestations of FEVR are found, and the association between clinical phenotypic and genetic heterogeneity still needs to be further explored.

Application of intraoperative OCT in fundus surgery / 中华实验眼科杂志

Optical coherence tomography (OCT) is an optical diagnostic technique that provides non-contact, non-invasive tomographic imaging of microscopic structures of living ocular tissues.However, it requires the patient to be seated during the examination, which limits its use in infants and recumbent patients.Intraoperative OCT (iOCT) can be used in patients in the decubitus position to provide the surgeon with critical real-time information on anatomy and subtle lesions, improving the success and safety of the procedure.At present, the clinically applied iOCT types include handheld OCT, microscope-mounted OCT, microscope-integrated OCT and so on, among which integrated microscope-integrated OCT is the most widely used.iOCT is mainly used in a variety of fundus surgeries, retinal detachment reduction and proliferative diabetic retinopathy resection in retinal disease surgeries, and macular hole repair and anterior macular membrane stripping in macular surgery.During surgery, the use of iOCT can play a role in reducing surgical complications, detecting subclinical lesions, helping the surgeon make the most appropriate surgical decision, and predicting patient prognosis.This article reviewed the classifications of iOCT, as well as its advantages and disadvantages in the application of retinal detachment, diabetic retinopathy, macular epiretinal membrane, macular hole and other diseases to provide a reference for clinical practitioners.

Efficacy of scleral buckling for retinal detachment secondary to familial exudative vitreoretinopathy / 中华实验眼科杂志

Objective:To evaluate the efficacy of scleral buckling in the treatment of retinal detachment (RD) secondary to familial exudative vitreoretinopathy (FEVR).Methods:An observational case series study was conducted.A total of 37 patients (42 eyes) of RD secondary to FEVR who were treated with scleral buckling in Beijing Tongren Hospital from July 2010 to March 2021 were enrolled.There were 30 males (35 eyes) and 7 females (7 eyes), with an average age of (15.21±5.42) years old.Scleral buckling under general anesthesia was performed in all patients.There were 22 eyes with rhegmatogenous RD (RRD), of which 21 eyes were treated with local external compression combined with cerclage, and 1 eye was treated with radial spinal compression.There were 13 eyes with tractive RD (TRD), of which 12 eyes were treated with local external compression combined with cerclage and subretinal fluid drainage, and 1 eye was treated with scleral buckling combined with vitrectomy.There were 7 eyes with RRD combined with TRD, of which 4 eyes were treated with local external compression combined with cerclage and subretinal fluid drainage, and 3 eyes were treated with scleral buckling combined with vitrectomy.The average follow-up time was (30.61±10.50) months.The main outcomes were best corrected visual acuity (BCVA) of the operated eye converted to the logarithm of the minimum angle of resolution, retinal reattachment rate, and incidence of complications.The study adhered to the Declaration of Helsinki and was approved by the Ethics Committee of Beijing Tongren Hospital, Capital Medical University (No.TRECKY2018-056-GZ[2022]-07). Written informed consent was obtained from each subject or their guardians before entering the cohort.Results:The average BCVA was 0.83±0.50 at last follow-up after surgery which was better than 1.10±0.39 before surgery, and the difference was statistically significant ( t=6.639, P<0.001). There were 39 eyes with retinal reattachment and 3 eyes without retinal reattachment.The reattachment rate was 95.45%(21/22) in RRD, 84.62%(11/13) in TRD, and 100%(7/7) in RRD combined with TRD.No serious complication occurred in any patients during postoperative follow-up. Conclusions:On the premise of optimized surgical strategy based on the indications of RD secondary to FEVR, scleral buckling has a high retinal reattachment rate in the treatment of RD secondary to FEVR.

Research progress on circular RNA in fundus oculi proliferative diseases / 中华实验眼科杂志

Fundus oculi proliferative diseases, such as choroidal neovascularization, diabetic retinopathy, and proliferative vitreoretinopathy, are characterized by cell proliferation and neovascularization.It can lead to damage to the ocular structure and visual acuity.Circular RNA (CircRNA) is a non-coding endogenous RNA, which has been confirmed to be involved in the pathophysiological process of many ophthalmic diseases by recent studies.Thus, circRNA may become a promising target of fundus oculi proliferative diseases.This review concluded the physiological function of circRNA and its role in the physiological and pathological process of diabetic retinopathy, proliferative vitreoretinopathy and glaucoma-related glia proliferation.

Research progress of the protection of rapamycin for proliferative vitreoretinopathy / 中华实验眼科杂志

Proliferative vitreoretinopathy (PVR) is a complication of ocular trauma, rhegmatogenous retinal detachment (RRD), and also a common cause of RRD repair surgery failure.Abnormal proliferation, migration and epithelial mesenchymal transition (EMT) of retinal pigment epithelium (RPE) cells play a leading role in the formation of PVR epiretinal membrane.Rapamycin is the specific inhibitor of mammalian target of rapamycin (mTOR). It selectively binds to the cell protein FKBP-12 and directly binds to the FKBP12-rapamycin domain (FRB) of FKBP rapamycin associated protein (FRAP) to inhibit mTOR activity.Rapamycin has a variety of rapalog (rapamycin analog), which inhibits cell proliferation and regulate cell cycle by inhibiting mTOR signal transduction pathway.It also plays a certain role in inhibiting RPE cell abnormal proliferation, migration and EMT in PVR, and protecting the repair of glial cells, inhibiting the inflammatory cells and preventing the vascular endothelial cell damage.In recent years, the clinical trials and drug studies have shown the important role of rapamycin in ocular diseases.In addition, the evidence on ocular administrations and drug safety of rapamycin has been gradually accumulated.This article reviewed the protective effects and safety of rapamycin on RPE cells and other cells in PVR.

Risk factors for failure after primary vitrectomy with no scleral buckling for rhegmatogenous retinal detachment / Fatores de risco para falha de tratamento após vitrectomia primária sem retinopexia com introflexão escleral

ABSTRACT Objective To assess pre-operative conditions that could influence primary anatomical success rate in a cohort of patients with rhegmatogenous retinal detachments (RRD) treated with primary vitrectomy and no scleral buckling. Methods A retrospective analysis was performed in a group of patients that underwent primary pars plana vitrectomy with gas tamponade and without scleral buckling for RRD between 2014 and 2019, with a minimum follow-up of 4 months. Results 305 eyes of 301 patients were included; 59.01% eyes were phakic, 39.01% were pseudophakic and 1.96% aphakic. 13.11% of patients had proliferative vitreoretinopathy grade B and 3.28% proliferative vitreoretinopathy grade C at the time of diagnosis while 83.61% had proliferative vitreoretinopathy grade 0 or A. 53.1% had superior breaks, 15.4% inferior breaks and 31.5% a combination of both. Primary success rate was obtained in 90.82% of eyes (95%CI 87.58-94.06). 9.18% of eyes (95%CI 5.94-12.42) re-detached. In 3.27% the cause of re-detachment was proliferative vitreoretinopathy, and in the remaining 5.90% because of a new or a missed break, the leakage of a previously treated break, or an area of shallow peripheral detachment with no detectable break. Of 181 phakic eyes, 10.49% re-detached, whereas in over 126 aphakic or pseudophakic eyes 7.75% re-detached (p=0.42). 16.39% eyes of the entire cohort had preoperative grade B or C proliferative vitreoretinopathy, whereas 32.14% of re-detached eyes had preoperative grade B or C proliferative vitreoretinopathy (95%CI 17.29-46.99; p=0.02). Th eyes that re-detached after the first surgery had a mean of 2.5 (95%CI 1.86-3.13) retinal tears, against a mean of 1.87 (95%CI 1.73-2.00) retinal tears of those that did not re-detach after the first surgery (p=0.02). Conclusion We found location of breaks and lens status to be independent factors not related to a lower single operation success rate, whereas the number or size of breaks and preoperative proliferative vitreoretinopathy stages B or C were independent factors related to a higher likelihood of re-detachment.

RESUMO Objetivo Avaliar condições pré-operatórias que poderiam influenciar a taxa de sucesso anatômico primário em uma coorte de pacientes com descolamento de retina regmatogênico tratada com vitrectomia primária e sem introflexão escleral. Métodos Foi realizada uma análise retrospectiva em um grupo de pacientes submetidos a vitrectomia primária pars plana com tamponamento gasoso e sem introflexão escleral por desprendimento de retina regmatogênico entre os anos 2014 e 2019, com monitoramento mínimo de 4 meses. Resultados Foram incluídos 305 olhos de 301 pacientes; 59,01% dos olhos eram fáquicos, 39,01% eram pseudofáquicos, e 1,96% era afáquico; 13,11% dos pacientes tinham vitreorretinopatia proliferativa grau B, e 3,28%, vitreorretinopatia proliferativa grau C no momento do diagnóstico, enquanto 83,61% tinham vitreorretinopatia proliferativa grau 0 ou A; 53,1% tinham rasgaduras superiores; 15,4%, rasgaduras inferiores e 31,5%, uma combinação de ambas. A taxa de sucesso primário foi obtida em 90,82% dos olhos (IC95% 87,58-94,06); 9,18% dos olhos (IC95% 5,94-12,42) se redestacaram. Em 3,27%, a causa do redescolamento foi vitreorretinopatia proliferativa e, nos 5,90% restantes, por causa de uma ruptura nova ou perdida, o vazamento de uma ruptura previamente tratada, ou uma área de descolamento periférico superficial sem ruptura detectável. Dos 181 olhos fáticos, 10,49% redestacaram-se, enquanto em mais de 126 olhos afáquicos ou pseudofáquicos 7,75% redestacaram-se (p=0,42); 16,39% dos olhos de toda a coorte tinham vitreorretinopatia proliferativa pré-operatória grau B ou C, enquanto 32,14% dos olhos redescolados tinham vitreorretinopatia proliferativa pré-operatória grau B ou C (IC95% 17,29-46,99) (p=0,02). Os olhos que se redescolaram após a primeira cirurgia tiveram média de 2,5 (IC95% 1,86-3,13) lágrimas retinianas, contra uma média de 1,87 (IC95% 1,73-2,00) lágrima retiniana daqueles que não se redestacaram após a primeira cirurgia. (p=0,02). Conclusão A localização das rasgaduras e o status da lente são fatores independentes não relacionados a uma menor taxa de sucesso da operação, enquanto o número ou o tamanho das rasgaduras e estágios vitreorretinopatia proliferativa pré-operatórios B ou C foram fatores independentes relacionados a uma maior probabilidade de redescolamento.

Mechanism underlying Müller cell pyroptosis and its role in the development of proliferative vitreoretinopathy

Abstract Objectives To explore the mechanism underlying Müller Cell Pyroptosis (MCP) and its role in the development of Proliferative Vitreoretinopathy (PVR). Method The expression of pyroptosis-related factors, namely, cysteinyl aspartate-specific proteinase (caspase-1), interleukin (IL)-1β, IL-18, and Gasdermin D (GSDMD), was detected by quantitative Reverse Transcription Polymerase Chain Reaction (qRT-PCR) and western blotting at the mRNA and protein levels, respectively, in retinal tissues. Müller and spontaneously Arising Retinal Pigment Epithelia (ARPE)-19 primary cells with GSDMD overexpression or knockdown were cultivated. Western blotting was used to detect the levels of the following pyroptosis-related factors in retinal tissues: caspase-1, IL-1β, IL-18, and GSDMD. Through Cell Adhesion (CA) experiments, the changes in ARPE-19 CA in each group were observed. The migration and invasion of ARPE-19 cells were measured using the Transwell assay. The proliferation of ARPE-19 cells was measured with a Cell Counting Kit 8 (CCK-8) assay. Finally, the expression of the cytokines IL-1β and IL-18 in the ARPE-19 cell culture medium was detected using the Enzyme-Linked Immunosorbent Assay (ELISA). Results Compared with the surrounding normal tissues, the expression of caspase-1, IL-1β, IL-18, and GSDMD at the protein and mRNA levels in the retinal proliferative membrane samples of the patients decreased significantly (p < 0.05). MCP significantly enhanced ARPE-19 CA, migration and invasion, proliferation, and cytokine expression (p < 0.05). Conclusions MCP can promote the development of PVR lesions.

Management and surgical outcomes of pediatric retinal detachment associated with familial exudative vitreoretinopathy – Our experience at a tertiary care ophthalmic center in North India

Purpose: To report the clinical profile, management, and long?term anatomical and visual acuity (VA) outcomes of pediatric macula?off rhegmatogenous retinal detachment (RRD) secondary to familial exudative vitreoretinopathy (FEVR). Methods: This was a prospective, interventional study of 14 eyes of 13 children aged ?18 years with macula?off FEVR?RRD. The primary outcomes were anatomical reattachment and VA changes. Results: The mean (±SD) age of the study population was 12.14 (±3.23) years (range 6–18 years) with a male preponderance (M:F – 10:3). Of the 14 eyes, 10 underwent vitrectomy with silicone oil injection, while four underwent scleral buckling surgery. Significant improvement in VA was noted at a mean (±SD) follow?up duration of 3.32 (±1.34) years, with the mean (±SD) LogMAR VA improving from 1.42 (±0.48) (Snellen equivalent 2/60; range from 6/36 to counting finger close to face [CFCF]) to 0.6 (±0.31) (Snellen equivalent 6/24; range 6/9–6/36) (P < 0.00001) at the final visit. Successful anatomical reattachment was achieved in 13/14 eyes (92.85%). Screening of the other eye and family members was performed for FEVR and treated with laser photocoagulation when deemed necessary (7/10 contralateral eye; 12/20 siblings; 0/24 parents). Conclusion: To conclude, RRD may arise in eyes with FEVR at a young age and with a male predilection in Indian population. Timely surgical intervention by scleral buckling procedure or vitrectomy, based on the patient profile, can achieve excellent anatomical and VA outcomes. Careful clinical and angiographic screening of the other eye and family members is vital.

Manejo del desprendimiento de retina regmatógeno / Management of rhegmatogenous retinal detachment

1. INTRODUCCIÓN El desprendimiento de retina es un problema visual grave que puede ocurrir a cualquier edad, aunque suele darse en individuos de edad media o en personas de la tercera edad. La incidencia es relativamente baja considerando que las estima-ciones varían según zonas geográficas; y, se han reportado datos de entre 6,3 y 17,9 por 100 000 habitantes. Otras características im-portantes a considerar son la degeneración en encaje de 45,75% y la miopía de 47,28% que influyen en la presentación del desprendi-miento de retina. Al mismo tiempo que la edad, los cambios vítreos retinianos y la presencia de pseudofaquia1,2. Además, de los factores oculares relacionados también influyen, el seguimiento inadecuado de los factores de riesgo y el difícil acceso a médicos especialistas que se traduce en retraso en el diagnóstico certero y tratamiento tardío que implica deterioro del pronóstico visual cuando el área macular está incluida en el área desprendida con pobres resultados en adultos jóvenes y en edad productiva.El tratamiento evitará el deterioro o pérdida irreversible de la visión. El pronóstico con tratamiento quirúrgico es bueno si el des-prendimiento no incluye a la mácula.

1. INTRODUCTIONRetinal Detachment is a serious visual problem that can occur at any age, although it usually occurs in middle-aged or elderly in-dividuals. The incidence is relatively low considering that estimates vary ac-cording to geographical areas; and, data have been reported be-tween 6,3 and 17,9 per 100 000 inhabitants. Other important cha-racteristics to consider are socket degeneration of 45,75% and myopia of 47,28% that influence the presentation of retinal deta-chment, as well as age, vitreoretinal changes and the presence of pseudophakia1,2.In addition to the related ocular factors, inadequate follow-up of risk factors and difficult access to medical specialists also play a role, resulting in delayed accurate diagnosis and late treatment that implies deterioration of the visual prognosis when the macular area is included in the detached area with poor results in young adults and those of productive age.Treatment will prevent irreversible deterioration or loss of vision. The prognosis with surgical treatment is good if the detachment does not include the macula.

Retinopatía del prematuro con presentación atípica / Retinopathy of prematurity with atypical presentation

La retinopatía de la prematuridad es una enfermedad dinámica vasoproliferativa de la retina inmadura postnatal que afecta a los bebés prematuros. Cuando aparecen signos de atipicidad en su diagnóstico o evolución deben descartarse otras entidades vasculares de la retina, que generalmente tienen un trasfondo genético y semejan o coexisten con dicha entidad. Se presenta un caso con características de Retinopatía del prematuro y algunos signos de atipicidad. Se describe su manejo y evolución, así como una breve descripción de las entidades que conforman el diagnóstico diferencial(AU)

Retinopathy of prematurity is a dynamic vasoproliferative disease of the immature postnatal retina that affects premature babies. When signs of atypicality appear in its diagnosis or evolution, other vascular entities of the retina must be ruled out, which generally have a genetic background and resemble or coexist with said entity. We present a case with characteristics of Retinopathy of prematurity and some signs of atypicality. Its management and evolution are described, as well as a brief description of the entities that make up the differential diagnosis(AU)

Correlation between retinal glial cells and proliferative vitreoretinopathy / 中华实验眼科杂志

Proliferative vitreoretinopathy (PVR) is a common complication of retinal detachment surgery, also an important blinding cause.Besides retinal pigment epithelial cells, retinal glial cells also are mainly involved in the formation and development of PVR.Retinal glial cells include Müller cells, astrocytes and microglia.The glial cells not only can be activated to change the morphology of cells, but also secrete growth factors and cytokines, synthesize extracellular matrix, and participate in the formation of PVR.The factors and synthetic extracellular matrix secreted by retinal glial cells promote the proliferation of retinal glial cells, which accelerates the development of PVR.This article described the interaction between the activation of retinal glial cells, astrocytes, growth factors secreted, cytokines secreted, extracellular matrix synthesized by glial cells and PVR formation, and the effect of non-coding RNAs on glial cells and PVR.

Advances in the correlation between growth factors and proliferative vitreoretinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

@#Proliferative vitreoretinopathy(PVR)is a common complication of perforation injury and surgery for rhegmatogenous retinal detachment. The pathogenesis of this disease is still unclear. However, studies have shown that retina pigment epithelium(RPE)cells have the ability to secrete cytokines, and many growth factors are overexpressed in vitreous or subretinal fluid in PVR patients. These growth factors and their receptors play an important role in the occurrence and development of PVR. When the blood-retinal barrier is broken, the physiological balance of growth factors disappears, and RPE cells are stimulated by growth factors to undergo epithelial-mesenchymal transformation(EMT), migration and proliferation, this leads to the formation of the preretinal membrane, which pulls on the retina and causes retinal detachment. In recent years, scholars have done a lot of researches on the signaling pathways, EMT process and cell proliferation involved in the formation of PVR with growth factors. This article will summarize the function of growth factors involved in the formation of PVR and the therapeutic effects of antagonistic growth factors in the development of PVR.

Research progress of microRNA in proliferative vitreoretinopathy / 国际眼科杂志(Guoji Yanke Zazhi)

@#Proliferative vitreoretinopathy(PVR)is a eye disease characterized by the formation of epiretinal membranes(ERM)composed of extracellular matrix(ECM)and various types of cells in the vitreous and/or the surface of the retina through the wound repair and fibrotic process. ERM shrinks to form retinal folds and stretches the retina to cause retinal detachment(RD). Epithelial-mesenchymal transition(EMT)of retinal pigment epithelial(RPE)cells and accumulation of ECM are considered to be the main pathological mechanisms for the formation of ERM. RPE cells undergo a process named EMT induced by transforming growth factor-β(TGF-β), by which differentiated epithelial cells go through epithelial phenotypic loss, the weakness of cell-cell contact and mesenchymal phenotype expression. Fibroblast-like cells differentiated from mesenchymal cells produce ECM and other components, which forms ERM together with glial cells and fibroblasts, <i>etc</i>. Recent studies indicated a lot of cytokines/growth factors, transcriptional factors, and microRNA(miRNA)regulate the development of EMT in RPE cells, in which miRNA is a novel and powerful regulatory gene and plays a critical regulatory role in the EMT process of PVR. This review focuses on the current understandings of the mechanism and the interventional treatments of miRNA in PVR.

Recent research progress on the role of Hippo-Yap signaling pathway in retinal diseases / 中华眼底病杂志

The classical Hippo pathway leads to the phosphorylation of downstream effector molecules Hippo-Yes-associated protein (Yap) and transcriptional coactivator PDZ-binding motif (Taz) serine sites through a kinase response, thereby promoting cell proliferation, controlling cell polarity, changing cytoskeleton, it plays an important regulatory role in various pathophysiological processes such as epithelial-mesenchymal transition and inhibition of cell contact. Studies have shown that Yap/Taz can affect the progression of vitreoretinal diseases, opening up new prospects for the pathogenesis and clinical treatment of diabetic retinopathy, proliferative vitreoretinopathy, and retinal ischemia-reperfusion injury. Exploring the molecular mechanism of Yap/Taz provides a possible therapeutic target for future research in the treatment of retinal fibrosis diseases such as diabetic retinopathy and proliferative vitreoretinopathy. At the same time, regulating the activity of local Yap/Taz in the retina will also become an effective therapeutic target for damage-repair in retinal ischemia-reperfusion injury. However, Yap inhibitors have potential retinal toxicity and are still in the preclinical development stage. Further research on the mechanism of action and clinical safety of Yap inhibitors will provide new methods for the treatment of retinal diseases.

Clinical and molecular genetics research of a Chinese Han family with Wagner syndrome / 中华实验眼科杂志

Objective:To explore the clinical features and pathogenic causes of a Chinese Han family with Wagner syndrome, and to analyze the relationship between VCAN gene mutation and patient phenotype. Methods:The method of family pedigree investigation was adopted.A Chinese Han family with Wagner syndrome in 3 generations including 13 family members was collected in Xiamen Eye Center of Xiamen University in January 2020, and 5 patients from 3 generations were diagnosed.All members underwent a comprehensive medical history collection and routine ophthalmological examinations, including visual acuity, intraocular pressure, slit lamp microscopy, and ophthalmoscopy to analyze the condition of anterior segment and fundus.Anterior segment photography, fundus photography, optical coherence tomography and ultrasound biological microscopy were carried out in the proband and some patients to analyze the condition of anterior segment, fundus and anterior chamber angle.The peripheral venous blood of all family members was collected for genomic DNA extraction, and pathogenic gene variation analysis for verification was through high-throughput target region capture sequencing and Sanger sequencing.Variants were scored using the American College of Medical Genetics and Genomics (ACMG) guidelines, and the structure and function of variants were predicted through PredictProtein.This study adhered to the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of Xiamen Eye Center of Xiamen University (No.MR-35-22-002800).Written informed consent was obtained from each subject.Results:The Chinese pedigree with Wagner syndrome was in accordance with autosomal dominant inheritance pattern, and all patients had no history of systemic disease or other abnormal manifestations.The common ophthalmic features of the patients were abnormal suspensory ligament, premature cataract, vitreous cavity, vitreous condensation, veil-like proliferative membrane in the vitreous cavity, retinal choroid atrophy and thinning, tractional retinal detachment, and retinal pigmentation.The proband had binocular cataract surgery, and binocular intraocular lens dislocation occurred after the operation.Genetic analysis revealed that a heterozygous splice site variation c.9265+ 1G>A in the VCAN gene in this family was co-segregated with the disease phenotype and graded as a likely pathogenic variant by the ACMG guidelines.This variant base pair substitution could cause the formation of a protein product with 1 754 amino acids shorter, resulting in insufficient haploid dosage and severe reduction of glycosaminoglycan attachment sites, making the versican protein dysfunctional. Conclusions:It is the first time to report a Chinese family with Wagner syndrome in China, and it is confirmed that the family has a heterozygous variation in the VCAN gene c.9265+ 1G>A by molecular genetic analysis.