Unilateral Retinal Detachment Research Articles

Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

BackgroundKnobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment.Case presentationBoth cases exhibited high myopia and various degrees of occipital skull defect. The first case, a female, had bilateral congenital retinal detachment, posterior embryotoxon, and strabismus. The second case, a male, had unilateral congenital retinal detachment and neuromotor developmental delay. The first case, diagnosed in the early months of life, underwent successful retinal reattachment surgery. However, surgery was not performed on the second case, who presented with late-stage unilateral retinal detachment and pre-phthisis.ConclusionsThe report describes two patients with Knobloch syndrome, one of whom responded favorably to surgery for retinal detachment in both eyes. Successful anatomical results were achieved with early surgical interventions. It is essential to recognize the phenotypic and genetic heterogeneity within KNO.

Rhegmatogenous Retinal Detachment Following Initiation of Pilocarpine Hydrochloride Ophthalmic Solution 1.25% for Treatment of Presbyopia.

Retinal detachment has previously been reported in association with topical miotic use for treatment of glaucoma. Pilocarpine hydrochloride 1.25% was recently FDA approved for treatment of presbyopia, with no reports of associated retinal detachments in the clinical trial data. Case report. We describe two novel cases of unilateral retinal detachment occurring within 10 days of initiation of pilocarpine 1.25% for treatment of presbyopia. The patients were pseudophakic men in their 60s or 70s with pre-existing retinal detachment risk factors such as high myopia, lattice degeneration, and prior retinal detachment. Both affected eyes were treated with pars plana vitrectomy and gas endotamponade with an uncomplicated post-operative course. Retinal detachment may be associated with pilocarpine 1.25% use. Caution should be used when considering prescribing this medication in patients with pre-existing retinal pathology.

Atypical Presentations of Hypomorphic X-Linked SCID

RationaleIL2RG mutations are associated with X-linked Severe Combined Immunodeficiency (X SCID). There is increasing awareness of Hypomorphic SCID associated with IL2RG variants; we present 3 novel mutations of this gene with variable presentations. MethodsChart review was performed for patients with hypomorphic SCID due to pathogenic IL2RG variants. Plasmablast differentiation was performed from peripheral blood mononuclear cells using CD40L and IL-21 stimulation for 6 days followed by staining for plasmablast markers (CD19+/CD27+/CD38+) and surface immunoglobulins. ResultsPatient 1 is a 7-year-old Honduran boy with history of recurrent sinopulmonary infections including recent CMV pneumonitis, bronchiectasis, chronic lung disease, food allergies, unilateral retinal detachment, and hydrocephalus s/p VP shunt. Immunologic testing showed elevated lymphocyte numbers with decreased memory B cells, normal immunoglobulins, absent vaccine responses, and poor proliferation to mitogens. Whole genome testing showed two mosaic mutations in IL2RG: c. 568C>T (20%), c. 589T>C (87%). He is on prophylaxis with azithromycin and trimethoprim/sulfamethoxazole, immunoglobulin, and awaiting definitive treatment. Patient 2 is a 10-year-old with recurrent sinopulmonary disease with bronchiectasis. He had normal TRECs, normal lymphocyte numbers with normal mitogen proliferation to PHA, normal immunoglobulin levels, but absent vaccine responses, and abnormal plasmablast differentiation (0.12% CD27+/CD38+ at day 6 post in vitro activation) and profoundly decreased expression of surface IgG and IgA in vitro. Genetic testing showed a hemizygous IL2RG c.32T>C mutation, as well as CFTR mutations (c.1972dup and c.1977_1985del, in cis). He is maintained on immunoglobulin replacement. Patient 3 is a 40-year-old who had recurrent infections beginning in childhood, and extranodal B-cell lymphoma at age 26 years. He had pan-lymphopenia, and genetic testing showed IL2RG c.982C>T, p.R328X. He underwent successful bone marrow transplantation from a matched sibling at age 36. ConclusionsHypomorphic X-SCID due to novel or mosaic variants in IL2RG can present with variable symptoms including malignancy and variable lymphocyte phenotype including normal T, B, and NK cell counts, and should be considered in males with opportunistic or persistent infections. [Display omitted]

An unusual complication: Preeclampsia-associated unilateral retinal detachment

An unusual complication: Preeclampsia-associated unilateral retinal detachment

Bilateral acute retinal necrosis associated with unilateral retinal detachment after COVID-19 infection - a case report

Bilateral acute retinal necrosis associated with unilateral retinal detachment after COVID-19 infection - a case report

Clinical findings in acute posterior vitreous detachment.

To analyze the typical presentation of acute posterior vitreous detachment (PVD), including demographics and prevalence of various treatable findings in the same and fellow eye. Retrospective analysis of medical records from 2346 patients with acute PVD. Descriptive statistics were generated on age, sex, contact date, visual acuity, and slit lamp, and fundoscopy findings. Multivariate regressions were used to generate odds ratios with 95% confidence intervals (CI) to quantify associations between variables. A total of 4692 eyes from 2346 patients were analyzed. Most patients were female (60.5%) with an average age of 62.8years old. Overall, 605 patients (25.8%) had any additional ocular finding on fundus exam, including pigmentation (N = 184, 7.8%), lattice degeneration (N = 158, 6.7%), tear (N = 131, 5.6%), and hole (N = 131, 5.2%). Unilateral retinal detachment was present in 26 patients (1.1%), and these patients demonstrated a similar rate (26.9%) of additional ocular findings compared to the entire sample size. Female sex (OR 1.21, 95% CI 1.03-1.43, p = 0.020) was independently associated with presentation during spring or summer. Acute PVD is associated with a number of risk factors and peripheral lesions. These findings may be useful in treating and predicting the course and development of PVD.

Asymmetric eye movement artifacts on EEG, secondary to unilateral retinal detachment in patients with focal epilepsy.

Asymmetric eye movement artifacts on EEG, secondary to unilateral retinal detachment in patients with focal epilepsy.

Initial-onset acute uveitis associated with Vogt-Koyanagi-Harada disease presenting with unilateral exudative retinal detachment despite bilateral choroidal involvement.

To investigate the frequency of initial-onset acute uveitis associated with Vogt-Koyanagi-Harada (VKH) disease presenting with unilateral exudative retinal detachment. A retrospective case series. During the period between January 1998 and December 2020, we identified 135 patients with initial-onset acute uveitis associated with VKH disease. Among them, 5 (3.7%) patients were referred to have unilateral uveitis due to the presence of exudative retinal detachment in only one eye. Optical coherence tomography confirmed the presence of unilateral exudative retinal detachment, however, indocyanine green angiography (ICGA) revealed characteristic findings of bilateral granulomatous choroidal inflammation typical for initial-onset acute uveitis associated with VKH disease. Patients with initial-onset acute uveitis associated with VKH disease can present with unilateral exudative retinal detachment. ICGA assessment of the choroid revealed the presence of subclinical involvement of the fellow eyes.

Outcomes of vitrectomy for retinal detachment in a patient with Ehlers\u2013Danlos syndrome type IV: a case report

BackgroundThe Ehlers–Danlos syndrome (EDS) is a group of connective tissue disorders characterized by fragile blood vessels and an increased tendency for bleeding and scarring. Here, we report the outcome of a pars plana vitrectomy for the treatment of rhegmatogenous retinal detachment in a patient with EDS type IV (vascular type).Case presentationA 40-year-old Slovenian man with high myopia, unilateral bullous retinal detachment, and vitreous hemorrhage was referred for surgery. The patient had a history of colon perforation, muscle and arterial rupture in both lower limbs, and recurrent shoulder joint luxations. Genetic testing revealed a pathogenic mutation in the COL3A1 gene. The patient underwent a 25-gauge three-port pars plana vitrectomy. The tendency for bleeding during surgery was prevented by endodiathermy applied to the edges of the retinal breaks. Endolaser photocoagulation was performed under air. The surgical procedure was completed with the injection of gas tamponade, followed by the patient remaining for a few days in a face-down position. Mild postoperative vitreous hemorrhage was resorbed in first week after the surgery. Postoperative extensive pigment dispersion on the posterior lens face persisted for several weeks. After the gas tamponade had resorbed, the retina was flat and remained attached during the follow-up period. Eight months after the surgery, visual acuity continued to improve from a preoperative 6/38 to 6/6.6 (Snellen chart) at the last checkup.ConclusionA small-gauge pars plana vitrectomy with gas tamponade and laser photocoagulation under air may successfully achieve reattachment of the retina in patients with high myopia with EDS type IV and restore visual acuity.

Laser Treatment after Minimized Eye Movement for Repair of Retinal Detachment

Abstract Laser treatment with minimized eye movement (LTMEM) resulted in a 79% reattachment rate for retinal detachment in 39 phakic eyes with shallow subretinal fluid by decreasing subretinal fluid by minimizing reading, writing and physical activity. Purpose To evaluate the effectiveness of laser treatment (LT) to seal retinal breaks and resolve retinal detachment after decreasing subretinal fluid with minimized eye movement (MEM) by avoiding reading, writing, computer use, and physical activity, while allowing watching television. Methods Retrospective study of patients evaluated at the Retina Consultants of Hawaii, who developed retinal detachment and were willing to initially minimize eye movement prior to having a more invasive surgery for retinal detachment, such as pneumatic retinopexy, scleral buckle or vitrectomy. Charts were reviewed for baseline characteristics, success of retinal detachment repair, subsequent surgical procedures, and recurrence of retinal detachment with long term follow-up Results This study included 39 eyes of 35 patients with 31 patients having unilateral retinal detachment treated with LTMEM and four patients having bilateral retinal detachment treated with LTMEM. Follow up ranged from three months to 30 years. Reattachment of the retina with LTMEM was noted in 31 of 39 eyes (79%) and final reattachment rate following further surgery with scleral buckle resulted in 100% retinal reattachment rate (39 of 39 eyes). Conclusion LTMEM can provide a low risk, minimal intervention, low cost procedure that can be an effective means of treating selected retinal detachments, usually but not always with peripheral shallow detachment around the existing breaks.

Long-term outcomes of pediatric traumatic cataracts and retinal detachments due to self-inflicted injuries

To report the characteristics and longitudinal visual outcomes of traumatic cataracts and retinal detachments in children with self-inflicted injury. A retrospective case series of pediatric patients at a tertiary care center who sustained ocular trauma due to self-inflicted injury between 2000 and 2014. A total of 11 children, all with an intellectual disability and a mean age of 10 ± 4.8 years (range, 2.8-16.2), were identified with traumatic cataract secondary to ocular self-inflicted injury over the study period. Five eyes had a concurrent unilateral retinal detachment. Over the course of follow-up, one additional eye developed a cataract and five eyes developed a retinal detachment. Patients underwent an average of 2.5 ± 2.3 procedures and 17.1 ± 10.7 eye examinations over 11.7 ± 4.2 years of follow-up; 36% required general anesthesia for examination. Visual acuity was improved or preserved in 77% of the eyes that underwent surgical interventions, but was worse in the remaining cases due to development of traumatic retinal detachment. The use of protective helmets, eye shields, and immobilizing orthoses were essential in management of active self-inflicted injury. Traumatic cataracts and retinal detachments due to self-inflicted injury may cause severe visual loss. Visual prognosis although poor in children with severe intellectual disabilities may be optimized with risk awareness for early detection and customized interventions.

Detection of retinal microvascular changes in von Hippel-Lindau disease using optical coherence tomography angiography.

PurposeVon Hippel-Lindau (VHL) disease is a hereditary disorder that can lead to ophthalmic manifestations, including retinal capillary hemangioma (RCH). The diagnosis of RCH is often guided by wide-field fluorescein angiography. In some cases, optical coherence tomography angiography (OCT-A) serves as a non-invasive alternative to FA. Herein, we used OCT-A to examine the macular microvasculature in patients with VHL disease.SubjectsSubjects were selected from patients with a diagnosis of VHL. The control group included eyes without retinal diagnosis from patients with an episode of unilateral retinal detachment or trauma and age ≤ 50 years old.MethodsSubjects were scanned on the Optovue RTVue-XR device to acquire 3mm x 3mm OCT-A images of the superficial (SCP) and deep capillary plexus (DCP). SCP and DCP vessel density (VD) were calculated after the images were binarized. Furthermore, for subjects with RCH, each OCT-A image was divided equally into four quadrants. SCP and DCP VD of quadrants with RCH were compared to those without RCH. T-tests were performed for statistical analysis.Results67 eyes with a history of VHL disease were included as study subjects, while 16 eyes were included as controls. Significant increases in VD were found in patients with VHL disease for both the SCP (p = 0.0441) and DCP (p = 0.0344). When comparing quadrants with associated RCH development to those without, we found no significant difference in SCP VD (p = 0.160) or DCP VD (p = 0.484).ConclusionsOCT-A can detect changes in the retinal microvasculature in the macula of patients with VHL disease. OCT-A imaging may be an additional tool for screening and early detection of patients at risk of developing ocular complications of VHL disease. Future studies should explore subtle progression on OCT-A associated with the pathogenesis and development of RCH, particularly with larger scan patterns.

Does the scleral encircling band provide a protective effect against the progression of diabetic retinopathy?

To evaluate the effect of scleral encircling bands on the development and progression of diabetic retinopathy (DR) in diabetic patients. The medical records of diabetic patients who underwent unilateral retinal detachment (RD) surgery using scleral buckle and encircling band were reviewed retrospectively. Both eyes of patients were included in the study: one eye in each patient had a scleral buckle with encircling band (the operated eye) and the other one is the non-operated eye. The demographic characters, duration of diabetes and period between surgery and the last recall visit were retrieved from each patient. All the cases underwent fundus photo and fluorescein angiography (when indicated) to confirm the DR staging. Totally 25 patients fulfilled the inclusion and the exclusion criteria were become eligible for the study. A total of 50 eyes of 25 patients were enrolled in this analysis. The mean period of time passed from surgery with encircling band and the last reassessment visit was 12.5±2y. Even though DR could develop in the operated eyes, it was at a less degree of severity compared to the non-operated eyes of same patients (P=0.027). Scleral encircling bands have protective effects against the development and progression of DR.

Diagnosis of complicated FEVR preoperatively and intra\u2212/post-operatively: characteristics and risk factors for diagnostic timing

BackgroundTo delineate the characteristics of complicated familial exudative vitreoretinopathy (FEVR) patients diagnosed before surgery or intra−/post-operatively and to analyze the risk factors for the diagnostic timing.MethodsForty-eight patients who underwent surgery and were diagnosed as FEVR in our department were retrospectively reviewed. Data were collected including the demographic and clinical characteristics of these patients. FEVR patients were divided into 2 groups according to the diagnostic timing: FEVR diagnosed pre-operatively (23 patients), FEVR diagnosed intra−/post-operatively (25 patients). Multivariable analysis was applied for analyzing the risk factors for diagnostic timing.ResultsThe clinical characteristics of the FEVR patients were of great variability, including retinal detachment (RD), disappear of anterior chamber, retrolental membrane, epiretinal membrane (ERM), vitreous hemorrhage (VH), myopic foveoschisis (MF), lamellar macular hole (LMH), high myopia (HM). And the referral diagnosis or pre-operative diagnosis were always non-specific. The majority of the referral or preoperative diagnosis were unilateral RD (52.1%), bilateral RD (8.3%), unilateral persistent fetal vasculature (PFV) (8.3%), bilateral PFV (4.2%). There are two risk factors for the complicated FEVR cases diagnosed as FEVR preoperatively: pre-operative ocular manifestations with RD only (OR, 0.104; p-value, 0.022), positive parent’s fluorescein angiography (FA) (OR, 0.105; p-value, 0.035).ConclusionsThe phenotypes of FEVR were greatly variable, they can mimic many non-specific vitreoretinal disorders. The most non-specific referral diagnosis/pre-operative diagnosis was unilateral RD, bilateral RD, unilateral PFV, bilateral PFV. A positive family history or a simple ocular presentation with RD only could contribute to diagnose FEVR preoperatively.

Nonaccidental injury presenting as unilateral retinal detachment in two infants

The association between abusive head trauma and retinal hemorrhages is well documented. As such, ophthalmic review in suspected nonaccidental injury has become routine. However, there is a paucity of reports focusing on ocular trauma and retinal detachment presenting as unilateral findings in nonaccidental injury and in the absence of other signs of physical abuse. This report identifies 2 suspected cases of nonaccidental injury in infants presenting to a tertiary care center with retinal detachment presumed secondary to severe unilateral direct ocular trauma. The fellow eye was normal in both cases. Findings were inconsistent with the reported histories from parents.

Disturbed interhemispheric functional connectivity in visual pathway in individuals with unilateral retinal detachment: A resting state fMRI study

AbstractPrevious neuroimaging studies demonstrated that retinal detachment (RD) subjects were associated with abnormal spontaneous brain activities; however, whether the altered interhemispheric functional connectivity (FC) occurred in RD patients remains unknown. The current study tried to explore the alternations of interhemispheric FC of the whole brain in unilateral RD patients using the voxel-mirrored homotopic connectivity (VMHC) method and their connections to clinical features. Methods: We recruited 30 patients with RD (16 males and 14 females) and 30 healthy controls (HCs) (16 males and 14 females) whose age and sex were closely matched. All subjects underwent the rs-fMRI scans. The VMHC method was applied to directly assess the hemispheres’ functional interaction. The VMHC in these brain areas, which could be used as biomarkers to differentiate RD from HC, was identified by the receiver operating characteristic (ROC) curve analyses. The relations between these patients’ clinical features and their mean VMHC signal values in multiple brain regions were calculated by Pearson correlation analysis. Results: RD patients had significantly lower VMHC values than HCs in the bilateral occipital lobe (Brodmann areas, BA 18), bilateral superior temporal gyrus (BA 39), and bilateral cuneus (BA 19). Moreover, the mean VMHC signal values of the bilateral cuneus were in positive correlation with the duration of the RD (r = 0.446, P = 0.013). Conclusion: Our results provided an evidence of disturbed interhemispheric FC in the visual area occurred in RD patients, which might provide some useful information to understand the neural mechanism of RD patients with acute vision loss. Furthermore, the VMHC values might indicate the progress of the RD.

Samoistne jednostronne wysiękowe odwarstwienie siatkówki jako pierwszy objaw raka płuca

Samoistne jednostronne wysiękowe odwarstwienie siatkówki jako pierwszy objaw raka płuca

The Effect of Scleral Buckling Surgery on Choroidal Thickness Measured by Enhanced Depth Optical Coherence Tomography: A Cross-Sectional Study.

IntroductionTo assess the anatomical changes taking place in the choroid after a scleral buckle (SB) procedure for retinal detachment repair.MethodsThis cross-sectional study looked at 23 adults with a history of unilateral retinal detachment repaired with a SB or other encircling element. The subjects underwent bilateral Enhanced Depth Spectral Domain Optical Coherence Tomography to image the choroid. The choroidal thickness (CT) was measured, and the non-operative eye was used as an internal control.ResultsCT was measured to be 170.8 ± 60.9 µm (mean ± SD) in eyes with SBs compared to 175.1 ± 61.9 µm in non-operative eyes. There was no statistically significant difference between the two groups (mean 4.3 µm, 95% CI −8.7, 17.3, p value 0.4973, paired t test).ConclusionPlacement of an SB as part of a surgery to repair retinal detachment did not significantly alter CT at the macula.

Masquerade syndromes in children

SummaryIn children the main diagnosis problem are represented by retinoblastoma and rhabdomyosarcoma.Retinoblastoma can sometimes present as an inflammatory disease with conjunctival and orbital inflammatory reactions. Some tumors can be the cause of major vascular dilatation and exudation which can simulate coats disease. Diffuse infiltrating retinoblastoma can simulate uveitis. All these aspects will be described extensively. One has to keep in mind the necessity of complete fundus examination in case of strabismus or leukocoria. In case of unilateral retinal detachment or uveitis, the possibility of retinoblastoma should always be ruled out before any surgery.Rhabdomyosarcoma usually presents like a rapid exophtalmia with inflammation but can also appear as a conjunctival or palpebral mass. It should not be mistaken for infectious disease and orbital biopsy should be performed promptly.

Long-term risk of glaucoma after encircling scleral buckle.

To determine the long-term risk of developing glaucoma after an encircling scleral buckle procedure. Retrospective case series of patients with at least 10 years of follow-up who underwent successful, unilateral retinal detachment repair by encircling scleral buckle. The main outcome measure was the proportion of eyes that developed perimetric glaucoma of buckled compared with fellow eyes. Sixty-eight patients with an average postoperative follow-up of 21 years were included. Perimetric glaucoma developed in 13% (9 patients), and an additional 22% (15 patients) had preperimetric glaucoma or were glaucoma suspects. Perimetric glaucoma was present in 2.9% of patients in the buckled eye only, 8.8% in the fellow eye only (P = 0.27), and 1.3% in both eyes. There was no increased prevalence of ocular antihypertensive use in buckled (5.9%) compared with fellow eyes (11.8%, P = 0.36). Our study showed no evidence of increased risk for developing glaucoma after repair of retinal detachment in eyes that underwent an encircling scleral buckling technique compared with fellow eyes with follow-up of at least 10 years.