Familial exudative vitreoretinopathy (FEVR) is a hereditary retinal vascular dysplasia. So far, 6 genes have been found to be associated with FEVR: Wnt receptor Frizzled Protein 4, Norrie's disease, co-receptor low-density lipoprotein receptor-related protein 5, tetraspanin 12, zinc finger protein 408, and kinesin family members 11 genes. Its clinical manifestations, pathological processes and genetic patterns are diverse, and it shows the relationship between gene polymorphism and clinical manifestation diversity. It is characterized by different symptoms between the same individual, the same family, and the same gene mutation; different clinical stages and gene mutation types of parents or unilateral genetic children; different clinical characteristics and gene mutation patterns of full-term and premature infant; combined with other eye disease and systemic diseases; double gene mutations and single gene mutations have different clinical manifestations and gene mutation characteristics. A comprehensive understanding of the different clinical manifestations and diverse genetics of FEVR can provide better guidance for the treatment of FEVR.
With the continuous advancement of technology, the field of retinal surgery is poised to witness an increasing array of innovations and breakthroughs. The innovation in retinal surgery plays a pivotal role in enhancing the success rate of operations, reducing the risk of complications, and improving patient prognosis and quality of life. This encompasses innovations in vitrectomy systems, the novel application of vitrectomy in treating other ocular diseases, advancements in retinal surgical techniques, technological and conceptual innovations, as well as multidisciplinary collaboration, all of which contribute to the ongoing development in the treatment of retinal diseases. Therefore, innovations in retinal surgery should receive significant attention from ophthalmologists specializing in retinal diseases with the best service to patients.
Acquired syphilis uveitis, due to lack of the characteristic features, presents with various types. The most common type is posterior uveitis and panuveitis, including chorioretinitis, retinal vasculitis, optic nerve retinitis. The diagnosis and assessment of response to treatment depends mainly on the serological diagnostic tests, including nontreponemal and treponemal test. Acquired syphilis uveitis often presents with manifestations similar to various types of uveitis, especially to autoimmune uveitis and other infectious uveitis, so differential diagnosis is important. The gold standard treatment for active syphilitic uveitis is penicillin G, or doxycycline if patient is allergy to penicillin. Clinically misdiagnosis and delayed treatment may result in irreversible visual impairment and severe systemic and eye complications. However such timely treatment always has a good prognosis.
The pathogenesis of diabetic retinopathy (DR) is complicated and has not yet been fully elucidated. To explore the pathogenesis of DR and the mechanism of drug action, proteomics through quantitative analysis techniques is very useful. It can analyzes differentially expressed proteins in the retina, vitreous fluid, aqueous humor, tears, and blood of DR patients and diabetic rats, and analyzes differentially expressed proteins after drug intervention. This paper is a review of the progress in proteomic research of DR in recent years.
Neural stem cell is a kind of stem cells that can differentiate into neural and glial cells. While Müller cells, the main endogenous neural stem cell in retina,have the features to reentry into the cell cycle and differentiate into neural cells after retinal damage. Although it is highly effective for retinal Müller cell differentiation spontaneously after retinal injury in vertebrates, this feature is rigorous restricted in mammals. Recently, some transcription factors,such as Ascl1, Sox2, Lin28, Atoh7, are sufficient to drive quiescent Müller cells back in proliferation to generate new retinal neurons. Moreover, combining Ascl1 expression with a histone deacetylase inhibitor can bypass the limitation and increase the generation of new neurons in the adult retina. These regenerated neurons integrate the existing neuronal network and are able to respond to light, indicating that they can likely be used to restore vision. While these results are extremely promising, the regenerative response is still limited, likely because the proliferative capacity of mammalian Müller cells is low compared to their zebrafish counterparts. It is indeed necessary to identify new factors increasing the efficiency of the regenerative response.
ObjectiveTo observe and analyze the genotype and clinical phenotype in 34 families of familial exudative vitreoretinopathy associated with (FEVR) gene variation.MethodsCohort study. Thirty-four FEVR families, in which the patients and both of their parents were all found to have FEVR-related gene mutations (proband 34 cases, 67 eyes; parents 68 cases, 136 eyes), were included in the study. These patients were identifIed from 722 FEVR patients through genetic screening, which diagnosed in Department of Ophtalmology of Xinhua Hospital and Tianjin Medical University Eye Hospital from January 2010 to December 2018. The probands and their parents underwent a comprehensive ophthalmological examination appropriate to their age, including BCVA, intraocular pressure, axial length, slit lamp examination, indirect ophthalmoscopy, FFA or color fundus photography or wide field color fundus photography. According to the severity of the disease, the clinical manifestations were divided into severe phenotype and mild phenotype. Thirty-four normal healthy people over 40 years old were included as the control group. The peripheral blood samples of FEVR family members and control group members were collected, and the genes known to be involved in FEVR, such as FZD4, LRP5, NDP, TSPAN12, ZNF408 and KIF11, were analyzed by next generation sequencing molecular genetics. The data were statistically analyzed by SPSS. The counting data was expressed in numbers or rates, and tested by Kruskal-Wallis test and χ2 test to find out the existence of significant difference.ResultsIn 67 eyes of the 34 probands, 48 eyes (71.64%) were classified into severe phenotype and 19 eyes (28.36%) were mild phenotype. In 136 eyes of 68 parents of the proband patients, 76 eyes (55.88%) were normal, 60 eyes (44.12%) were classified into mild phenotype, and no severe phenotype was found. A total of 65 variants of FEVR-related genes were detected in the 34 probands, of which LRP5 mutation was the most common (64.61%), followed by FZD4 (12.31%), NDP (10.77%), TSPAN12 (6.15%), ZNF408 (4.62%) and KIF11 (1.54%). Missense mutations were the most common variant in FEVR-related genes. However, the results of correlation analysis indicated that there was no significant correlation between the type of mutation and the severity of clinical phenotype (H=1.775, P=0.620). Among the 65 mutation types, 21 types have been previously identified and 44 were novel in this study. Thirty-nine eyes of 20 cases had only one single pathogenic mutation gene but with multiple mutation sites, 26 eyes of 13 cases carried 2 relevant pathogenic mutation genes, and 2 eyes in one case had 3 pathogenic mutation genes. The mutation frequencies of LRP5, NDP, ZNF408, FZD4, TSPAN12 and KIF11 genes in probands were significantly higher than those in control group, and the difference was statistically significant. The total mutation frequencies of LRP5, NDP, ZNF408, FZD4, TSPAN12 and KIF11 genes in proband group were significantly higher than those in control group (χ2=64.702, P＜0.001).ConclusionsIn the FEVR families, the most frequent mutations were those in LRP5, followed by FZD4, NDP, TSPAN12,ZNF408 and KIF11. Missense mutation is the most common type of FEVR-related gene mutation, but there is no significant correlation between the clinical phenotype and gene variation type. Most of the probands were with severe clinical phenotype, while most of the parents with FEVR pathogenic gene mutation showed normal or mild manifestations.
ObjectiveTo evaluate the surgical outcomes of 25G+ vitrectomy with air tamponade and 1-day prone positioning for idiopathic macular hole (IMH).MethodsA prospective analysis was performed on 39 patients (39 eyes) underwent 25G+ pars plana vitrectomy (PPV) combined with the internal limiting membrane (ILM) removal and fluid-air exchange for IMH from July 2012 to December 2013. After vitrectomy, patients were instructed to keep prone positioning for only 1 day (the air group). These patients were compared to 30 consecutive patients from July 2010 to July 2012, who were conducted 25G+ PPV with 25% SF6 tamponade. They remained in the same face-down position for 3 days postoperatively (SF6 group). Age, gender, logMAR BCVA, macular thickness, macular hole diameter, axial length, macular hole stages and pseudophakic status were collected as baseline characteristics in both groups. The initial hole-closure rate, visual outcome and intra-operative & post-operative complications were evaluated for 6 months. Group comparisons of numeric variables were made by using two sample t -test. Group difference of categorical variables was determined by using standard chi-square test or rank sum test.ResultsThirty nine patients (39 eyes) and 30 patients (30 eyes) were respectively enrolled in air group and SF6 group. The distribution of age (t=－1.63), gender (χ2=0.03), logMAR BCVA (t=0.39), macular thickness (t=－0.93), macular hole diameter (t=－0.70), axial length (t=－0.56), macular hole stages (Z=－0.47) and pseudophakic status (χ2=0.13) was similar in both groups. Anatomical closure of macular holes was achieved in 35 (89.7%) of the 39 eyes in the air group and in 27 eyes (90.0%) in the SF6 group. There was no significant difference of closure rate between the two groups (χ2=0.001, P=0.970). The postoperative visual acuity of gaining, stability and decreasing 2 or more 2 lines was achieved in 23 eyes,10 eyes and 6 eyes in air group and 18 eyes, 6 eyes and 6 eyes in SF6 group. The proportion of visual acuity improvement in air group was lower than that in SF6 group without the statistical significance (Z=－0.08, P=0.93). The gas bubble was absorbed sooner in the air group (mean 8.54±1.74 days) than in the SF6 group (mean 31.10±3.20 days). No retinal break, retinal detachment or endophthalmitis occurred in either group. Postoperatively intraocular pressure was elevated temporarily in 2 eyes of the air group and 3 eyes in the SF6 group. All returned to normal limit after local medication.ConclusionCompared to SF6 group, air group has similar anatomical macular hole closure rate and visual acuity rehabilitation.
Atopic dermatitis (AD) is a chronic inflammatory skin disease characterized by severe itching and recurrent eczema-like lesions. With the increase in the global incidence of AD, the incidence of ocular complications in patients also increases. Retinal detachment (RD) seriously affects the vision of patients, and is more common in young and middle-aged people, often involving both eyes with poor prognosis. What’s more, there are many similarities between RD associated with AD and traumatic RD, such as peripheral retinal breaks, giant retinal tears and retinal dialysis. Regarding the mechanism of AD complicated with RD, the trauma theory is widely accepted. Scholars have also reported on the theory of anterior eye developmental abnormalities, inflammation-traction theory, and ectodermal origin theory. On AD complicated with RD, regardless of scleral buckling surgery or vitrectomy surgery, the rate of first retinal reattachment is low with severe proliferative vitreoretinopathy or chronic uveolar inflammation after surgery, which cause traction on the ciliary body and the retina separation appearance again or new cracks appearance. Combination of behavioral therapy, drug therapy and psychotherapy can effectively reduce the occurrence of RD; prevention of eye rubbing, reduction of traumatic exercise, rational use of glucocorticoids or immunosuppressants under the guidance of dermatologists are effective ways for AD patients to prevent RD occurrence. Regular eye examinations can help patients find RD as soon as possible so that they can be treated in time.
ObjectiveTo observe the prevalence of fundus tessellation in college students with high myopia and analyze the relationship of fundus tessellation and ocular biological parameters.MethodsA cross-sectional study. A total of 202 eyes of 161 individuals were included in the study. Among them, there were 49 males and 112 females with the average age of 19.73 ± 1.12 years old, and the average spherical equivalent of －7.39 ± 1.12 D. All participants underwent computer optometry, non-mydriatic fundus photography, OCT, OCT angiography (OCTA) examination and axial length (AL) measurement. The non-mydriatic fundus camera was used to take the photo of fundus. Fundus tessellation was differentiated to no leopard eye fundus (grade 0), mild leopard eye fundus (grade 1) and middle leopard eye fundus (grade 2) and for severe leopard eye fundus (grade 3). The lenstar was used for eye axis measurement. The choroid, retinal thickness and microvessel density of the macular fovea at the posterior pole of the fundus were measured using a swept-frequency source optical coherence tomography scanner. According to the ETDRS, the choroid within 6 mm of the fovea was divided into 3 concentric circles centered on the macula, which were the central area with a diameter of 1 mm, the inner ring area of 1-3 mm and the outer ring area of 3-6 mm. The outer ring area of 3-6 mm included a total of 9 zones. The inner ring and outer ring 4 regions were superior, inferior, nasal and temporal, respectively. The distribution characteristics of choroid and retinal thickness in different regions and the density of superficial microvessels in the macular area of the retina were observed. Bivariate correlation analysis was used to analyze the relationship of fundus tessellation and ocular biological parameters.ResultsAmong 202 eyes, 37 eyes with leopard pattern fundus with 0 grade (18.32%, 37/202), 165 eyes with grade 1 to 3 (81.68%, 165/202), of which grade 1, 2 and 3 were respectively 125 (61.88%, 125/202), 28 (13.86%, 28/202), 12 (5.94%, 12/202) eyes. The thickness of the retina, both horizontally and vertically, increased first and then decreased from the nasal side to the central area, was lowest in the central area, then increased and then decreased; the overall thickness of the temporal side was slightly lower than that of the nasal side, and the overall thickness of the lower part was slightly lower than the upper part. The choroidal thickness gradually thickened from the nasal side to the temporal side in the horizontal direction; it gradually decreased in the vertical direction from the top to the central area, then increased and then decreased. The SCP blood flow density in the central area in the horizontal and vertical directions was lower than that in other areas. In multivariate regression analysis, Leopard-like fundus classification and AL (β=0.291, OR=1.338, 95%CI 1.064-1.682, P=0.013), SCP blood flow density in the central area of the macula (β=0.080, OR=1.084, 95% CI 1.006-1.167, P=0.034) and choroidal thickness (β=－0.033, OR=0.968, 95%CI 0.960-0.975, P＜0.001) were related.ConclusionsPatients with high myopia have a higher prevalence of tessellation. The deepening of tessellation is related to the thinning of the choroid thickness, the growth of the eye axis, and the larger density of the superficial microvessels in the fovea.
ObjectiveTo analyze the risk factors of neovascular glaucoma (NVG) after 25G pars plana vitrectomy (PPV) in proliferative diabetic retinopathy (PDR).MethodsA retrospective study. From January 2017 to December 2018, 340 PDR patients (340 eyes) with vitreous hemorrhage (VH) who were first treated with PPV in Tianjin Medical University Eye Hospital were included in the study. Among them, 185 were male and 155 were female, with an average age of 55.79±10.82 years. The duration of diabetes was 13.01±7.70 years, the fasting blood glucose was 7.55±2.15 mmol/L. Nineteen patients combined coronary heart disease, and 20 patients combined cerebral infarction. All patients underwent best-corrected visual acuity (BCVA), intraocular pressure (IOP), non-contact fundus examination, and fundus color photographs. BCVA was measured using an international standard Snellen visual acuity chart, and the values were converted to logarithm of the minimum angle of resolution (logMAR) scores for data analysis. The baseline logMAR BCVA was 2.04±0.73, The baseline IOP was 15.45±2.93 mmHg (1 mmHg=0.133 kPa). The duration of VH was 2.98±1.46 months, ranged from 3 weeks to 6 months. Three hundred and forty eyes included 93 eyes of PDR Ⅳ stage (27.35%), 107 eyes of Ⅴ stage (31.47%), and 116 eyes of Ⅵ stage (34.12%), combined tractional retinal detachment (TRD) 83 eyes. All patients underwent 25G standard three channel vitrectomy through the pars plana of the ciliary body. Preoperative anti-VEGF injection was performed in 57 eyes, internal limiting membrane (ILM) peeling in 234 eyes, combined phacoemulsification cataract surgery in 262 eyes and 141 eyes intravitreal anti-VEGF injection at the end of surgery. The patients were followed up for at least 12 months, with an average follow-up time of 10.80±5.79 months. NVG was defined as the presence of neovascularization in the anterior chamber angle or iris with an IOP higher than 21 mmHg after vitrectomy. Kaplan-Meier method and Cox univariate and multivariate regression were used to analyze the relationship between baseline factors, ocular factors, surgical factors and the occurrence of NVG after surgery.ResultsAmong 340 eyes, 66 eyes (19.41%) developed NVG after vitrectomy during 12 months of observation, NVG occurred from 6 to 335 days after surgery, and the mean period between vitrectomy and developing NVG was 98.00±5.79 days. The incidence of NVG was 11.50%, 15.29% and 20.75%, respectively in the 3rd, 6th and 12th month after PPV. The result of univariate analysis with the Cox regression analysis showed that the development of NVG at 12 months after surgery and age, combined coronary heart disease or cerebral infarction, combined with cataract phacoemulsification, ILM peeling, preoperative anti-VEGF injection had effect on postoperative NVG (P＜0.05). Ocular factors such as PDR staging, combined TRD, preoperative logMAR BCVA, preoperative intraocular pressure, etc. had no effect on the occurrence of NVG after surgery (P＞0.05). Combined cataract phacoemulsification surgery, internal limiting membrane peeling, surgical factors such as intracavity injection of anti-VEGF drugs 3 days before surgery, had an impact on the occurrence of NVG after surgery (P＜0.05). The meaningful variables of the Cox univariate analysis were incorporated into the multivariate Cox proportional hazard model for analysis, and the influencing factors of NVG after surgery were gradually regressed. The results showed that age, coronary heart disease or cerebral infarction, combined with phacoemulsification of cataract, and internal limiting membrane removal during surgery were independent risk predictors of NVG after surgery (P＜0.05).ConclusionsYounger, coronary heart disease or cerebral infarction, combined with cataract phacoemulsification are the risk factors of NVG in PDR patients after PPV. The removal of internal limiting membrane can reduce the incidence of NVG.