Refractory macular holes typically represent macular holes larger than 400 μm, macular holes in pathological myopic eyes or complicated with myopic schisis, chronic holes longer than 6 months, persistent macular holes after surgeries, and some subtypes of secondary macular holes. A routine pars plana vitrectomy combined with internal limiting membrane peeling yielded a lower closure rate and unsatisfying visual rehabilitation in patients with refractory macular holes, which raised concerns among vitreoretinal surgeons. This editorial reviewed the new upcoming surgical techniques which were reportedly to improve the anatomical and visual prognosis of major subtypes of refractory macular holes. Although with a great variability, these surgical techniques are based the following surgical strategies: firstly, to sufficiently unravel the epi-macular tractional force; secondly, to bridge the defect of neurosensory retina by tissue insertion or implantation and stimulate wound healing process; thirdly, proper tamponade of gas or silicone oil so that the surface tension can stabilize the inserted or implanted tissue and encourage closure of the holes. In conclusion, surgical strategies for refractory macular holes should be made after a comprehensive consideration and a customized design.
“The international classification of retinopathy of prematurity (ROP)(The 3rd edition)”, retains current definitions such as zone, stage, and circumferential extent of disease, however, there are also many updates. Major updates include: (1) increase of the definition of posterior pole Ⅱ; (2) introduction of a new concept "notch"; (3) definition of stage 5's subcategorization; (4) recognition that a continuous spectrum of vascular abnormality exists from normal to plus disease. Updates also include the definition of “aggressive ROP” to replace “aggressive-posterior ROP”. ROP regression and reactivation are described in detail, with additional description of long-term sequelae.
Morning glory syndrome (MGS) is a congenital optic disc anomaly. The characteristic ophthalmoscopic findings consist of a generally enlarged, funnel-shaped and excavated optic disc, surrounded by an elevated annulus of chorioretinal pigment disturbance, with a central glial tuft, multiple narrow branches of retina vessels radiating from the disc. There are peripheral non-perfusion retinal areas in most cases. The pathogenesis of MGS remains unclear. MGS might be associated with many ocular and systemic abnormalities, involving facial, central nervous, cerebrovascular and endocrine systems. Persistent hyperplastic primary vitreous and retinal detachments (RD) are the most common ocular complications of MGS. The mechanism RD in MGS is unclear. Vitrectomy with long-acting gas or silicone tamponade and photocoagulation around the breaks or the enlarged disc might be efficient for rhegmatogenous RD of MGS. Early diagnosis is crucial for recognition and treatment of the ocular and systemic complications, and maintenance of the visual function.
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 investigate the relationship between genotype and phenotype in children with CRB1 mutated Leber congenital amaurosis (LCA) and early onset retinal dystrophy (EOSRD).MethodsA retrospective clinical study. From January 2013 to December 2019, 10 children with CRB1 mutated LCA/EOSRD were enrolled in the study. The patients were identified as CRB1 mutation by the second generation targeted capture sequencing, Sanger sequencing and the family segregation analysis. All children underwent electroretinogram (ERG) and fundus examination. At the same time, 6 cases were examined by optical coherence tomography (OCT); 1 case was examined by fluorescein fundus angiography (FFA), 7 cases were examined by wide-angle laser scanning ophthalmoscope (UWF SLO).ResultsThere were 6 cases of LCA and 4 cases of EOSRD in 10 patients with CRB1 gene mutations. The average age of first visit was 3.61 years old. The light and dark wave of ERG was flat in 6 cases, and decreased in 4 cases. A total of 19 pathogenic mutations were detected. There were 1 homozygous mutation and 9 compound heterozygous mutations. There were 4, 2 and 1 cases of “copper-coin” like, “salt and pepper” like and “osteocyte” like pigment changes in retina, 1 case of “crystalline pigment” change and 2 cases of macular pigment scar. In 7 cases of UWF SLO examination, different degrees of para-arteriolar pigment epithelium retention (PPRPE) were found in the middle and peripheral fundus. In 6 cases examined by OCT, the outer layer of retina atrophied and the band of ellipsoid disappeared. Symmetrical cystoid macular edema, splitting cystoid macular degeneration and adhesion of epi-macular membrane to optic disc and macular area were found in 1 case, respectively, the retinal structure was rough and thickened, and the fovea became thinner in 3 cases. In FFA examination, 1 case showed uveitis-like changes with late optic disc fluorescein staining, macular fluorescence accumulation, strong fluorescence diffusing along the blood vessels in each quadrant, peripheral PPRPE of “frost-branch” like strong fluorescence.ConclusionThe relationship between genotype and phenotype of CRB1 mutation is complex, and PPRPE is a common characteristic change.
Retinopathy of prematurity (ROP) is a proliferative vascular retinal disease. Cryotherapy, laser photocoagulation, intravitreal injection of anti-vascular endothelial growth factor, scleral buckling surgery and vitrectomy are the main treatments. Treated with cryotherapy or laser photocoagulation or intravitreal injection of anti-vascular endothelial growth factor, patients with a history of ROP have thicker foveas, and the morphology of the fovea and the development of the retinal vessels in the macular area are affected, resulting in abnormal vision development. However, the specific mechanisms by which different treatments of ROP affecting the development of the macula are not yet clear. It still need further study with large samples to verify and explore, whether changes in the levels of intraocular vascular endothelial growth factor changing the process of normal macular development and how the abnormal development of the macula affects visual function.
Persistent fetal vasculature syndrome (PFVS) is a rare congenital vitreous dysplasia, which is classified as anterior, posterior and combined types according to the location of the vascular abnormalities. The clinical manifestations of PFVS are diverse, and early surgical intervention is very important. The main objective of surgical treatment is to remove the anterior and posterior traction between fibrovascular membranes and retina as well as lens, and to reconstruct clear visual axis. Surgical treatments include pupilloplasty, lensectomy with or without intraocular lens implantation and vitrectomy via limbal or scleral approach. For new technologies, the applications of ophthalmic viscosurgical device and femtosecond lasers have desirable results . In addition to focusing on improving the success rate of surgery, it is also necessary to systematically and comprehensively assess the overall preoperative condition and postoperative visual function of the patients. PFVS eyes have limited improvement in postoperative vision, which is related to the extent of lesion involvement and the occurrence of complications. Eyes with macular dysplasia and tractional retinal detachment, as well as elongated ciliary process, have a poor prognosis of vision after surgery. How to improve postoperative vision in the eye affecting the posterior segment of the eye with PFVS from the microscopic anatomical relationship between the fibrous vascular pedicle and the retina is worth further study. On the other hand, reducing surgical trauma and optimizing surgical procedures in order to improve postoperative visual acuity and reduce postoperative complications are also the key research directions of future PFVS treatments.
Objective To observe the surgical outcome of the modified transconjunctival technique for minimal segmental buckling on rhegmatogenous retinal detachment (RRD). Methods This is a retrospective case series. Seventy-six patients (78 eyes) with uncomplicated RRD who underwent the modified transconjunctival technique for minimal segmental buckling were enrolled in this study. There were 41 male (42 eyes) and 35 female (36 eyes). The average age was (33.9±15.6) years. Best corrected vision acuity (BCVA), fundus examination with three-mirrors lens, ocular B ultrasound, optical coherence tomography (OCT) were performed in all patients. BCVA was examined through Standard logarithmic visual acuity chart and transferred to logMAR vision for statistical analysis. The logMAR BCVA was 0.88±0.88. The technique was successfully performed in all 78 eyes. After transconjunctival location of the retinal break was made, a 5 to 6 mm radial conjunctival incision was performed corresponding to the retinal break without cutting the limbal conjunctiva–Tenon’s capsule. After cryopexy, a minimal explant was fixed with one to two sutures through the conjunctival opening, expanded by a pediatric speculum. BCVA, intraocular pressure, tear film stability, conjunctival recovery and retinal reattachment were collected 1 week, 1 month, 3 months, 6 months after surgery. Results One week after surgery, retinal reattachments were achieved in 77 of 78 (98.7%) eyes and 1 eye (1.3%) received vitrectomy. Compared before surgery, the logMAR BCVA improved to 0.44±0.41, with significant difference (t=3.092, P＜0.01). Conjunctival incision tear occurred in 1 eye. Subretinal hemorrhage occurred in 5 eyes during subretinal fluid drainage procedure. Subretinal hemorrhage occurred in 5 eyes during subretinal fluid drainage procedure. Hemorrhage was absorbed in 2 of the 5 eyes at 3 months after surgery and absorbed in all 5 eyes at 6 months after surgery. Subretinal fluid occurred in 10 eyes at 1 week after surgery and be absorbed completely at 6 months after surgery. Tear film stability improved to preoperative lever at 1 week after surgery. Less change in corneal and conjunctival sensitivity was observed in all eyes. No other surgical complications were observed within the follow-up period, such as scleral perforation, explant extrusion, diplopia or infection. Conclusions The modified transconjunctival technique for minimal segmental buckling minimizes the damage to conjunctiva without reducing the retinal reattachment rate. It can effectively treat uncomplicated RRD with preserving an intact limbal conjunctiva and rapid tear film stability recovery.
ObjectiveTo observe the clinical characteristics of rhegmatogenous retinal detachment (RRD) secondary to conservative therapy in retinoblastoma (RB) patients.MethodsA retrospective study. From July 2013 to May 2017, 20 RRD patients (20 eyes) of 456 RB patients (573 eyes) treated in Xinhua Hospital of Shanghai Jiao Tong University School of Medicine were included in the study. Eleven patients (11 eyes) were boy and 9 patients (9 eyes) were girls. Thirteen patients demonstrated bilateral RB and 7 patients had unilateral RB. Average age when diagnosed with RB was 25 months. International Classification of Retinoblastoma groups were C in 1 eye, D in 17 eyes, and E in 2 eyes. These patients received intra-arterial chemotherapy (17 eyes), intravenous chemotherapy (11 eyes), intravitreal chemotherapy (8 eyes), laser (14 eyes) and/or cryotherapy (5 eyes). Twelve patients (12 eyes) received vitreoretinal surgery including vitrectomy (6 eyes) and scleral buckling (7 eyes). The mean follow-up was 39 months. Fundus examination was performed under general anesthesia during comprehensive treatment and follow-up. The time interval of fundus examination varied from 1 to 6 months depending on the stability of the tumor.ResultsRRD was noted in 20 eyes (3.5%) with RB. Retinal hole was found in 15 eyes (75%). The cause of RRD was atrophic hole in calcified tumor (6 eyes, 30%), cryotherapy-related hole (5 eyes, 25%) and laser-related hole (9 eyes, 45%). Multiple atrophic hole in calcified tumor was noted in 3 eyes. Size of hole smaller than 2 DD was noted in 8 eyes (53%), and larger than 2 DD was noted in 7 eyes (47%). Holes were in posterior (3 eyes), equator (2 eyes) and periphery (10 eyes). Severe proliferated was noted in 1 eye. No tear was found. No bulbar retinal detachment and choroidal detachment was noted. Among 12 eyes who underwent vitreoretinal surgery, reattachment was achieved in 9 eyes (75%). No metastasis was noted.ConclusionsCalcified regression of tumor, cryotherapy and laser were main reasons of RRD. Most of the holes are small in diameter and located in the periphery.
ObjectiveTo evaluate the functional and anatomical outcomes of autologous single retinal pigment epithelium (RPE) transplantation for severe obsolete submacular hemorrhage (SMH) in late age-related macular degeneration (AMD). MethodsA retrospective clinical study. From January 2012 to December 2015, 11 patients with AMD (11 eyes) with obsolete SMH who were diagnosed and treated by pars plana vitrectomy (PPV) combined with autologous RPE transplantation at the Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were included. Among them, there were 9 eyes in 9 males and 2 eyes in 2 females. All the eyes underwent the examinations of best corrected visual acuity (BCVA) and optical coherence tomography; 4 eyes underwent macular fixation function (MAIA) at the same time. The BCVA examination was carried out using the international standard visual acuity chart, which was converted into logarithm of the minimum angle of resolution (logMAR) visual acuity during statistics. All eyes were treated with PPV combined with autologous single-layer RPE transplantation or autologous RPE-choroidal full-thickness transplantation, and were divided into S group and C group, with 5 and 6 eyes respectively. The differences of age (t=－0.363), gender composition ratio (χ2=0.549), course and thickness of SMH (t=0.118, 0.231), average times of anti-vascular endothelial growth factor drug treatments (t=0.129), times of PPV (t=－0.452) between the two groups were not statistically significant (P>0.05). The follow-up period was 6-40 months after the operation, and the BCVA, MAIA, graft status and complications of the eyes after the operation were observed. The comparison of continuous variables between groups was performed by independent-sample t test; the comparison of categorical variables was performed by χ2 test. ResultsAt the last follow-up, the average logMAR BCVA of the eyes in group S and C were 1.62±0.34 and 1.03±0.20, respectively; group C was better than group S, however, the difference was not statistically significant (t=1.532, P=0.160). There were 4 eyes (80%, 4/5) and 6 eyes (100%, 6/6) in S group and C group with BCVA better than preoperative, the difference was no statistical significance (χ2=0.677, P=0.895). There were 2 (40%, 2/5) and 3 (50%, 3/6) eyes with logMAR BCVA better than 1.0 in S group and C group, and the difference was not statistically significant (χ2=0.572, P=0.423). After the operation, 6 eyes of grafts were in good condition and 5 eyes were in poor condition; the BCVA of grafts in good condition was significantly higher than that of poor condition, the difference was statistically significant (t=4.894, P=0.001). Among the 4 eyes that underwent MAIA examination, 2 eyes were unstable and diffusely fixed on the graft; the fixation point was located at the normal retina adjacent to the graft area in 2 eyes. Secondary subretinal hemorrhage occurred in 3 eyes after the operation; the intraocular pressure was high in 1 eye after the operation. During the follow-up period, no intraocular infection, secondary retinal detachment, recurrent choroidal neovascularization or low intraocular pressure occurred in all eyes. ConclusionsBoth autologous single-layer RPE transplantation and autologous RPE-choroidal full-thickness transplantation can help stabilize or even improve the visual function of eyes with severe SMH secondary to advanced AMD. The visual acuity after surgery is closely related to the state of the graft.