RETINAL VASCULAR DISEASE IN LIMB-GIRDLE MUSCULAR DYSTROPHY.

PURPOSE: To report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy (LGMD). METHODS: Case report. RESULTS: A 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion. Ultra-wide-field fluorescein angiography showed resolving initial peripheral retinal vein occlusion in one eye and peripheral venular segmental staining in the fellow asymmetric eye. Genetic testing established the diagnosis of LGMD. CONCLUSION: Similar to other forms of muscular dystrophy, LGMD is caused by genetic abnormalities in sarcolemma proteins, a key structural component that connects the intracellular cytoskeleton of a myofiber to the extracellular matrix. Like other muscular dystrophies, LGMD may be associated with retinal vascular abnormalities noted. In this case, retinal vascular smooth muscle dysfunction was seen in LGMD, analogous to reported vascular abnormalities in other muscular dystrophies such as facioscapulohumeral dystrophy and Duchenne muscular dystrophy.

NATIONWIDE DEMOGRAPHIC DISPARITIES IN UNITED STATES EMERGENCY DEPARTMENT VISITS IN PATIENTS WITH RHEGMATOGENOUS RETINAL DETACHMENT.

BACKGROUND/PURPOSE: Within the evolving landscape of healthcare in the United States (US), delineating the demographic nuances and financial implications of emergent conditions, such as rhegmatogenous retinal detachment (RRD), is paramount. This study seeks to analyze the demographic and hospital billing amount/cost of service disparities in RRD visits to emergency departments (EDs) nationwide. METHODS: We conducted a retrospective, cross-sectional, population-based study using International Classification of Diseases, 10th revision , and Current Procedural Terminology codes in the 2016 to 2019 Nationwide Emergency Department Sample databases to identify RRD visits. The analysis included demographics, hospital billing amount, and cost of service of RRD ED management. RESULTS: A total of 12,492 RRD encounters were identified with men constituting 64% and a prominent age group being 50 to 64 years (49.3%). Most patients (90%) were managed in metropolitan teaching hospitals, predominantly in the southern U.S. region (56.1%). Private insurance covered 45% of patients. Same-day RRD repair odds increased in November and December. Whites had a higher likelihood for same-day treatment. Hospital billing amount rose from $23,600 in 2016 to $30,354 in 2019, with stable mean total cost of service. Rhegmatogenous retinal detachment ED visit incidence did not show seasonal variation ( P = 0.819). CONCLUSION: Most patients with RRD in U.S, EDs were middle-aged men, with Whites more likely to receive same-day repair. There was no sex bias observed in same-day repair decision-making. Although hospital billing amount increased over the study period, total cost of service remained stable. The incidence of RRD ED visits showed no seasonal variation.

Retinal displacement following repair of rhegmatogenous retinal detachment.

Retinal displacement following the repair of rhegmatogenous retinal detachment (RRD) has been reported in recent studies. It was described as vertical movement of the retinal relative to its original location, as evidenced by retinal vessel printing on fundus autofluorescence imaging. This review reports the current literature on retinal displacement. We conducted an English literature search using Medline, PubMed, Embase, and Web of Science. We have reviewed 22 articles describing the diagnosis, frequency, and possible risk factors for retinal displacement. The reported rate of retinal displacement ranged from 6.4% to 62.8%, and the possible risk factors included the detachment-to-repair time, location and extent of RRD, macula-off RD, presence of subretinal fluid, use of perfluorocarbon, use of tamponade, postoperative facedown positioning, type of RRD repair, and presence of proliferative vitreoretinopathy, especially high grade. This review increases awareness of retinal displacement and its associated visual effects.

Limitations of direct-to-consumer genetic testing for age-related macular degeneration.

The availability of direct-to-consumer genetic testing (DTCGT) for age-related macular degeneration (AMD) provides the public with access to disease risk estimations that may be used to guide lifestyle adjustments. However, AMD development risk is more complex than can be captured by gene mutations alone. The methodologies employed by current DTCGTs to estimate AMD risk vary and are limited in several ways. Genotyping-based DTCGT is biased toward European ancestry and only considers a limited number of genes. Whole genome sequencing based DTCGTs uncovers several genetic variations with unknown relevance, making risk interpretation challenging. In this perspective, we describe the limitations of the DTCGT for AMD.

EVALUATION OF RETINAL DISPLACEMENT FOLLOWING PRIMARY SCLERAL BUCKLING FOR MACULA-INVOLVING RHEGMATOGENOUS RETINAL DETACHMENT.

PURPOSE: To evaluate the incidence and degree of retinal displacement following scleral buckling surgery for macula-involving rhegmatogenous retinal detachment. METHODS: Retrospective interventional case series comprised of patients treated with primary scleral buckling procedure without gas tamponade for macula-involving rhegmatogenous retinal detachment and imaged postoperatively with fundus autofluorescence imaging between June 1, 2016 and July 25, 2021. Clinical notes, operative reports, fundus autofluorescence photographs, and optical coherence tomography images were reviewed. The presence and degree of retinal displacement were recorded. RESULTS: Twelve eyes of 11 patients were included. One (8%) eye with an epiretinal membrane demonstrated 0.1 mm of retinal displacement along the superior arcade and in the superotemporal periphery. The remainder of eyes (92%) did not show any identifiable signs of retinal displacement. CONCLUSION: Retinal displacement does not seem to be a frequent complication of primary scleral buckling surgery for macula-involving rhegmatogenous retinal detachment.

Natural History and Surgical Timing for Idiopathic Epiretinal Membrane.

PURPOSE: This study assessed the prevalence of progression to surgery on idiopathic epiretinal membrane (iERM) and compared the results with those of immediate surgery. DESIGN: Retrospective study with nested case-control comparison. SUBJECTS: Patients with mild iERM at initial presentation METHODS: A retrospective study with a nested case-control study was conducted to compare the outcomes of those who later progressed to surgery ("deferred surgery") with those of a control group that underwent surgery within 6 months of initial presentation ("immediate surgery"). MAIN OUTCOME MEASURES: The prevalence of performing vitrectomy with membrane peeling after initial deferral, features associated with deferred surgery, and the visual acuity (VA) outcomes of surgery compared with those with immediate surgery. RESULTS: A total of 413 patients were included in the base study cohort: 369 did not undergo iERM peeling, whereas 44 (10.7%) underwent deferred surgery at a mean duration of 18.1 months after initial presentation. The factor most associated with later progression to surgery, determined using a multivariate analysis, was symptoms at initial presentation (odds ratio [95% confidence interval], 8.75 [3.80-20.15]; P < 0.0001). The immediate surgical group (controls) had a poorer logarithm of the minimum angle of resolution (logMAR) best-corrected visual acuity (BCVA) at presentation compared with the deferred surgery group (cases), but this decreased in the latter group to about the same preoperative level immediately before the deferred surgery (typically why they underwent surgery). The final logMAR BCVA was similar in the deferred and immediate surgical groups when only pseudophakic cases were analyzed. An analysis of the change from preoperative BCVA (instead of initial) to final BCVA showed no difference in the magnitude of change between the pseudophakic subgroups of the deferred and immediate surgery groups (median [interquartile range] preoperative VA of 0.52 [0.40-0.60] in the deferred surgery group and 0.44 [0.39-0.60] in the immediate surgery group [P = 0.7256]). Within the deferred and immediate surgery groups, the median change from preoperative BCVA to final BCVA in the pseudophakic subgroups was 0.22 (P = 0.0082) in the former and 0.21 (P = 0.0001) in the latter. CONCLUSIONS: The vast majority of eyes with iERM remain stable after initial presentation. The deferral of surgery in the minority of patients who progress does not have a disadvantageous final outcome compared with immediate surgery.