ATM Gene Variants in Patients with Idiopathic Perifoveal Telangiectasia

PURPOSE. To investigate the prevalence of sequence variants in the ATM gene and to determine the frequency of major agerelated macular degeneration (AMD)-associated variants in CFH, CFB, and 10q26 loci in patients with idiopathic perifoveal telangiectasia (IPT). METHODS. Thirty patients with diagnoses of IPT underwent standard ophthalmologic evaluation that included visual acuity testing, fundus photography, and fluorescein angiography. DNA was screened for variations in the ATM gene by a combination of denaturing high-performance liquid chromatography and direct sequencing. Major AMD-associated alleles in CFH, CFB, and 10q loci were screened by PCR-restriction fragment-length polymorphism. RESULTS. Nineteen female and 11 male patients (average age, 59 years) with a median visual acuity of 20/50 were evaluated. Six patients were of Asian-Indian origin, one was Hispanic, and 23 were of European-American ancestry. Nine of 30 (30%) patients had diabetes mellitus, 18 of 30 (60%) patients had hypertension, and 12 of 30 (40%) patients had a history of smoking. Screening of the ATM gene revealed a null allele in 2 of 23 (8.7%) patients of European ancestry, previously disease-associated missense alleles in 4 of 23 (17.4%) patients, and common missense alleles in 7 of 23 (30.4%) patients. No variants were identified in the ATM gene in patients of Asian or Hispanic origin. Frequencies of major AMD-associated alleles in CFH, CFB, and 10q loci in the IPT cohort were similar to those in the ethnically matched general population. CONCLUSIONS. At least 26%, and maybe up to 57%, of IPT patients of European-American descent carried possibly diseaseassociated ATM alleles. Vascular risk factors such as hypertension, diabetes, and smoking may be associated with the pathogenesis of the disease. (Invest Ophthalmol Vis Sci. 2008; 49:3806 -3811

COST ANALYSIS OF SCLERAL BUCKLE, PARS PLANA VITRECTOMY, AND PARS PLANA VITRECTOMY WITH SCLERAL BUCKLE FOR RETINAL DETACHMENT REPAIR

To compare the cost and utility of scleral buckle (SB), pars plana vitrectomy (PPV), and PPV with SB (PPV/SB) for moderately complex rhegmatogenous retinal detachment repair. Cost-utility analysis using data from the Primary Retinal Detachment Outcomes Study. The model estimated costs, lifetime utility, and lifetime cost per quality-adjusted life year for treatment of moderately complex rhegmatogenous retinal detachment with SB, PPV, or PPV/SB. Data from the Centers for Medicare and Medicaid Services were used to calculate costs in hospital and ambulatory surgery center settings. Total costs (2020 US dollars) for repair of a moderately complex rhegmatogenous retinal detachment in hospital (ambulatory surgery center) settings were $5,975 ($3,774) for the SB group, $8,125 ($5,082) for the PPV group, and $7,551 ($4,713) for the PPV/SB group. The estimated lifetime quality-adjusted life years gained were 5.4, 4.7, and 4.7 in the SB, PPV, and PPV/SB groups, respectively. The cost per quality-adjusted life year for hospital and ambulatory surgery center settings was $1,106 a ($699) for the SB group, $1729 ($1,081) for the PPV group, and $1,607 ($1,003) for the PPV/SB group. Scleral buckle, PPV, and PPV/SB yielded very favorable cost-utility results for the repair of moderately complex rhegmatogenous retinal detachment, with slightly better results for SB, compared with current willingness to pay standards

Retinal microvascular abnormalities, cotton wool-like lesions, and macular edema following COVID-19 in a patient previously vaccinated with AstraZeneca and idiopathic myopathy

In this case study, the authors describe peculiar bilateral cotton wool-like retinal lesions associated with macular edema in a patient with COVID-19 who was vaccinated with a single dose of AstraZeneca one month earlier. This patient had no pulmonary or systemic cardiovascular complications from COVID-19, as reported in other papers that found retinal lesions. However, the patient was diagnosed with idiopathic myopathy when discovering the SARS-CoV-2 infection. The patient was a 22-year-old white female with no previous history of morbidity, complaining of blurred vision in both eyes seven days after testing positive for SARS-CoV-2 by PCR (using nasal and oral swab) and confirmed through ELISA blood test (IgM positive). There was no ancillary test revealing diabetes mellitus. The patient presented with scattered whitish cotton wool-like lesions and a few hemorrhages on the posterior pole in fundus examination. On spectral domain optical coherence tomography (SD-OCT), there were hyperreflective lesions in the nerve fiber layer, ganglion cell layer, inner nuclear layer, and inner and outer plexiform layers at the site corresponding to the whitish cotton wool-like lesions in the posterior fundus photos. Moreover, the macula of both eyes had intraretinal and subretinal fluid, reversible with corticosteroid therapy. In conclusion, COVID-19 has been associated with capillary disorders at different target sites such as retina, lungs, and central nervous system. Similarly, vaccination against SARS-CoV-2 has been linked to retinal complications in the literature; however, cotton wool-like lesions have not yet been reported. There are many questions yet to be answered about the implications of COVID-19 infection and its vaccines

Branch retinal artery occlusion with paracentral acute middle maculopathy related to a COVID-19 infection in a patient with Anosmia

PURPOSETo report a case of paracentral acute middle maculopathy (PAMM) due to branch retinal artery occlusion (BRAO) as a complication of COVID-19.METHODSA case report evaluated through spectral-domain optical coherence tomography (SD-OCT), fluorescein angiography, and OCT angiography.RESULTSA 55-year-old man complained of blurred vision in the right eye. He presented with anosmia and tested positive for COVID-19 one week before. Fundus examination revealed a superior temporal whitening of the retina, SD-OCT showed a hyperreflective band-like lesion on the nuclear layer consistent with PAMM.CONCLUSIONCOVID-19 infection involves inflammatory and thrombotic events. Even patients with just anosmia may have complications such as BRAO associated with PAMM

Surgical Outcomes of Acute Retinal Necrosis-related Retinal Detachment in PCR-positive Patients: A Single Center Experience

To evaluate the clinical features, operative techniques, and surgical outcomes of patients that underwent surgery for acute retinal necrosis-related retinal detachment (ARN-RD). Retrospective, longitudinal, consecutive case series Patients with polymerase chain reaction-positive ARN presenting from 2011-2021 that underwent vitreoretinal surgery for ARN-RD at our institution. Univariate, multivariate, and survival analysis were used to determine predictors of anatomic and functional outcomes. Single-surgery anatomic success rate, recurrent RD, visual acuity at 1 year Thirty-four eyes of 34 patients (32.4% women, mean age 45.1 ± 20.4 years) were included for analysis with a median follow-up of 2.5 (IQR 0.8-5.5) years. Presenting VA was 1.1 ± 0.8 LogMAR [Snellen ∼ 20/250]. Median time from presentation to RD surgery was 1.7 months (IQR 0.8-4.1) and mean preoperative visual acuity was 1.6 ± 0.8 LogMAR [Snellen ∼ 20/800]. Small-gauge pars plana vitrectomy (PPV) with or without a scleral buckle (SB) was performed for all eyes with an overall single-surgery success rate of 63.6% with no statistically significant differences in visual/anatomic outcomes between PPV and PPV/SB cases. Silicone oil was used for tamponade in 33 (97.1%) and was removed in 10 (30.3%) with good anatomic and final functional outcomes (Snellen ∼ 20/80). Independent predictors of recurrent RD included female gender (Hazard ratio [HR], 8.38; 95% Confidence Interval [CI], 2.03-34.68; P 0.05 for both compared to preoperative VA, respectively). Eyes that achieved single-surgery success had VA1year of 20/200 vs hand motions in those with single-surgery failure (P < 0.01). On multivariate linear regression, younger age (P = 0.04) and better presenting VA (P < 0.01) were both associated with better VA1year. Moderate single-surgery anatomic success can be achieved with modern vitreoretinal surgical techniques for ARN-RD, though visual outcomes remain poor. Further studies investigating interventions for increasing single-surgery success rates, for the inflammatory complications of ARN, and for preventing ARN-RD are needed. Modern small-gauge vitreoretinal techniques achieved a 63.6% single-surgery anatomic success rate in a consecutive cohort of patients with PCR-positive acute retinal necrosis-related retinal detachment, though visual outcomes were poor

Rationale for American Society of Retina Specialists Best Practice Recommendations for Conducting Vitreoretinal Surgery during the COVID-19 Era

To detail the rationale behind recommendations recently published by the American Society of Retina Specialists (ASRS) outlining best practices for safety of vitreoretinal surgeons and staff while performing vitreoretinal surgery during the coronavirus disease (COVID)-19 pandemic. The committee for ASRS Best Practices for Retinal Surgery during the COVID-19 Pandemic reviewed existing evidence and information on SARS-CoV-2 transmission, and risk factors during vitreoretinal surgery. Recommendations were based on best available published data, cumulative clinical experiences, and recommendations and policies from other organizations. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach was used to assess the strength of recommendations and confidence in the evidence. These serve as interim recommendations which are routinely updated given gaps of knowledge and lack of high-quality data on this evolving subject. Relevant existing literature related to methods of transmission, and ocular manifestations of SARS-CoV-2 are summarized. The data and clinical experiences driving recommendations for pre-operative, intraoperative and post-operative surgical considerations, anesthesia choice, as well as considerations for intravitreal injections are provided. Recommendations are provided with the goal of protecting vitreoretinal surgeons and associated personnel from exposure to SARS-CoV-2 during interventional vitreoretinal procedures. This is a rapidly evolving topic with numerous remaining gaps in our current knowledge. As such, recommendations will evolve and the current manuscript is intended to serve as a foundation for continued dialogue on best practices