Retina-The Journal of Retinal and Vitreous Diseases最新文献

Purpose: Inherited retinal diseases (IRDs) are among the most common causes of visual impairment in children and young adults. The aim of our study was to characterize early clinical manifestations, main IRDs and causative genes and in a pediatric cohort.

Methods: Retrospective study case series of children with a diagnosed IRD. Data extracted from medical charts included IRD type, clinical manifestations, demographic details and molecular analysis when available.

Results: We have identified 199 children. The earliest and most common symptom was nystagmus (mean age: 1.78 years), followed by photophobia, strabismus and high refractive errors. The most common diagnoses were retinitis pigmentosa (RP), achromatopsia and CSNB; achromatopsia and Leber's congenital amaurosis presented significantly earlier than other IRDs. Most common identified genes were CNGA3, TRPM1, CNGB3 and CRB1.

Conclusions: Nystagmus was the earliest and most common symptom, particularly if disease manifests during the first year of life. Photophobia, strabismus and high refractive errors were also common. Main IRDs in our studied population were RP, achromatopsia and CSNB, and the most common genes identified were CNGA3 and TRPM1, differing from the ones seen later in adulthood.Identification of IRDs early clinical manifestations can help affected families reach early diagnosis, support and family planning.

Purpose: We described the clinical characteristics of age-related retinal pigment epithelium disease (ARPED). This looks like an age-related, retinal disease showing a primary RPE involvement, no typical age-related macular degeneration features, and no pachychoroid-related characteristics.

Methods: The study was designed as observational, both cross-sectional and retrospective investigation. We collected data from patients affected by ARPED, defined by precise diagnostic criteria. We performed both qualitative and quantitative multimodal retinal imaging investigations. The main outcome measure is the characterization of ARPED, defined by precise diagnostic criteria, about age-related macular degeneration. Secondary outcome is the identification of differential diagnostic features about other retinal diseases.

Results: We included 31 ARPED eyes (62 patients). Intergraders agreement for detecting ARPED was 0.98 ( P < 0.05). Age-related retinal pigment epithelium disease is characterized by the absence of age-related macular degeneration-related findings, such as drusen and pseudodrusen. Moreover, it is characterized by the absence of pachychoroid-related features, as also confirmed by fluorescein angiography and indocyanine green angiography.

Conclusion: Although further studies are warranted to better define ARPED features and if it may be considered a distinct macular disease, the characteristics of this clinical phenotype introduce new intriguing pathophysiologic features and should be carefully considered both in clinical practice and research contexts.

Purpose: To describe the multimodal imaging findings of the angular sign of Henle fiber layer hyperreflectivity at baseline and follow-up in patients with contusion maculopathy.

Methods: Eleven eyes of 10 patients were captured with multimodal imaging after nonpenetrating ocular blunt trauma from a soccer ball, fist, or airsoft pellet. Baseline clinical and imaging characteristics and follow-up outcomes are presented.

Results: Hyperreflective lesions extending along the Henle fiber layer from the ellipsoid zone to the outer plexiform layer consistent with angular sign of Henle fiber layer hyperreflectivity were identified with optical coherence tomography. The mean presenting visual acuity was logMAR 0.59 ± 0.64 (Snellen visual acuity 20/77, range 20/25 to counting fingers) and the follow-up visual acuity was logMAR 0.43 ± 0.35 (Snellen visual acuity 20/53, range 20/20-20/200). Additional optical coherence tomography findings included external limiting membrane attenuation and retinal pigment epithelium disruption. On follow-up, resolution of angular sign of Henle fiber layer hyperreflectivity was accompanied by outer nuclear layer thinning with varying degrees of ellipsoid zone attenuation and retinal pigment epithelium loss. A macular hole was detected in one patient on follow-up.

Conclusion: Angular sign of Henle fiber layer hyperreflectivity is a distinctive acute optical coherence tomography feature of contusion maculopathy secondary to blunt injury, causing disruption of the photoreceptors and presumably anterograde alterations in the Henle fiber layer. Associated retinal pigment epithelium alterations may ensue, either acutely or delayed, and are a biomarker of persistent structural abnormalities and variable visual outcomes.

Purpose: To reassess the anatomical basis of optic disc pit maculopathy using swept source optical coherence tomography and to characterize the broader structural abnormalities comprising the optic pit complex.

Methods: Sixteen patients with optic disc pit maculopathy were imaged using a high-resolution swept source optical coherence tomography system (DREAM optical coherence tomography). Cross-sectional and volume-rendered scans were analyzed for lamina cribrosa defects, intraneural cavitations, and pathways for fluid entry into or beneath the retina.

Results: All eyes demonstrated lamina cribrosa defects with associated cavitations extending a mean of 1855 ± 492 µ m posterior to a modified Bruch membrane opening. Four distinct patterns by which fluid entered the retina were observed: (1) direct channels from cavitations into the retina, (2) perivascular hyporeflective spaces, (3) intraneural channels extending toward cystoid spaces, and (4) isolated retinal cysts without a visible interconnection. Vitreous remnants, trabecular structures, or disorganized connective tissue were found within the optic nerve pit in several eyes. In 13% of cases, the pit was not visible by ophthalmoscopy due to overlying tissue. These structural variations frequently coexisted, and associated abnormalities extended beyond the optic disc margins.

Conclusion: Optic disc pit maculopathy is associated with a spectrum of deep optic nerve abnormalities, collectively termed the optic pit complex. The combination of laminar disruption, cavitations, and multiple anatomical conduits for fluid ingress broadens the morphologic understanding of this condition. Swept source optical coherence tomography enables visualization of structures not accessible by ophthalmoscopy and may improve diagnostic precision, guide treatment decisions, and clarify the diverse mechanisms contributing to fluid accumulation in optic disc pit maculopathy.

Purpose: Systemically administered anticancer vascular endothelial growth factor inhibiting therapies can cause severe kidney injury. Intravitreal aflibercept has a greater impact on renal vascular endothelial growth factor levels than ranibizumab. We compared the risk of kidney injury among patients receiving intravitreal aflibercept versus ranibizumab.

Methods: This population-based new-user active-comparator cohort study in Ontario, Canada, evaluated 44,571 patients aged 66 years and older, newly treated with intravitreal aflibercept or ranibizumab between August 1, 2015, and July 31, 2019. The risk of adverse renal outcomes was compared while controlling for baseline and time-varying covariates.

Results: The composite renal outcome occurred in 12.0% (1,778/14,863) of aflibercept recipients versus 10.0% (1,327/13,289) of ranibizumab recipients (relative risk: 1.00, 95% CI: 0.93-1.06 at the 5-year follow-up). No significant differences were observed across retinal disease subgroups.

Conclusion: Intravitreal aflibercept and ranibizumab carry comparable risks of renal adverse events despite their distinct systemic pharmacodynamics.

Purpose: Evaluate impact of sociodemographic factors with visual acuity (VA) and macula status at presentation in pediatric rhegmatogenous retinal detachment (RRD) and with single surgery anatomic success (SSAS), postoperative VA, and 1-year lost to follow-up (LTFU).

Methods: Retrospective review of patients <18 years who presented with RRD between 2015 and 2024. Data on demographics (age, gender, race, ethnicity), area deprivation index, insurance status, rurality of residence, and travel time to clinic were recorded. Visual acuity was recorded at presentation and 12-month postoperative visit. Regression analysis was used to evaluate the relationship of sociodemographic factors with macula status at presentation, presenting VA, SSAS, 12-month postoperative VA, and LTFU.

Results: Of the 229 pediatric patients who presented with RRD, 33.6% (N = 77/229) were macula-on at presentation. The mean (± SD) patient age was 12.9 (±4.1) years and 58% were male. On multivariable analysis, older age (OR 1.17, 95% confidence interval: 1.07-1.28, P < 0.001) was the only factor predictive of macula-on status at presentation. Females (OR 2.31, 95% confidence interval: 1.18-4.56, P = 0.02) versus males were more likely to have better vision (VA 20/40 or better) at presentation. The SSAS was 85.9%, and macula-off status at presentation (OR 4.47, 95% confidence interval: 1.21-16.46; P = 0.02) was associated with increased likelihood of needing reoperation. The 1-year LTFU rate was 46%, with insured status associated with decreased odds of LTFU.

Conclusion: Older age and female gender were associated with more favorable presentation among pediatric RRDs and insurance status influenced LTFU. Area deprivation index and travel time did not influence presentation or postoperative outcomes in pediatric RRDs.

Purpose: To investigate the rate and progression of epiretinal membrane (ERM) formation after scleral buckling (SB) for rhegmatogenous retinal detachment.

Methods: A retrospective review of eyes undergoing SB for rhegmatogenous retinal detachment repair between January 2015 and June 2022 that developed ERM. ERM grading and structural analysis were performed using spectral domain optical coherence tomography (SD-OCT) based on a standardized scheme.

Results: Among 1,064 eyes undergoing SB, 143 eyes (13.4%) developed ERM. Over a mean (SD) follow-up of 5.3 (2.6) years, most eyes (122/143, 85.3%) were observed, while 21 (14.7%) underwent membrane peeling at a mean (SD) of 13.2 (13.8) months post-SB. There was no statistically significant ERM stage predilection observed in the eyes that underwent membrane peeling. The observed eyes had mean (SD) logMAR VA [Snellen equivalent] of 0.51 (0.63) [20/65] at ERM diagnosis, 0.34 (0.39) [20/44] at 12 months post-ERM diagnosis ( P = 0.03), and 0.36 (0.43) [20/46] at final visit ( P = 0.03). In eyes that underwent membrane peeling, mean (SD) logMAR VA [Snellen equivalent] improved from 1.25 (0.69) [20/356] prepeel to 0.63 (0.71) [20/85] at final visit ( P < 0.001).

Conclusion: ERM commonly develops after SB for rhegmatogenous retinal detachment repair. Most cases were mild stage and managed conservatively with vision improving over 5.3 years.

Purpose: To report the prevalence, risk factors, and surgical management outcomes of rhegmatogenous retinal detachment (RRD) in Marfan syndrome.

Methods: Retrospective chart review of 82 patients with Marfan syndrome who have developed RRD. The collected data included lens status, previous surgeries, details of intraoperative retinal findings, and follow-up outcomes.

Results: The study included 163 eyes of 82 patients. Forty-three patients (52.4%) were males. The mean duration of follow-ups was 15.3 ± 13.4 years. RRD occurred in 54 eyes (33.1%). The mean age at the time of RRD was 25.2 ±12.5 years. Risk of RRD was significantly higher among patients who had previous trauma ( P = 0.014), previous ocular surgery ( P = 0.001), lensectomy without implantation of an intraocular lens ( P = 0.002), aphakia ( P < 0.001), lens subluxation ( P = 0.002), and higher axial length ( P < 0.001). Successful primary reattachment was achieved in 36 eyes (69.2%), whereas 16 eyes (30.8%) required secondary repairs to achieve reattachments.

Conclusion: Eyes with Marfan syndrome have a 33.1% risk of developing RRD upon long-term follow-ups. Previous trauma, intraocular surgeries, aphakic status, and high axial length are associated with higher risk. High reattachments rates could be achieved after surgical repairs.

Purpose: This study validates a deep learning-based artificial intelligence tool for quantifying macular edema (ME) intraretinal fluid (IRF) volumes in retinitis pigmentosa, and through longitudinal analysis of IRF, provides new insight into treatment efficacy and disease natural history.

Methods: This retrospective, longitudinal study identified patients with retinitis pigmentosa with ME. A commercially available retinal analysis tool quantified IRF and was validated for segmentation of ME using spectral-domain optical coherence tomography volume scans. Baseline analysis of IRF versus traditional central subfield thickness and longitudinal analyses of IRF versus treatment and best-corrected visual acuity were performed.

Results: Forty-four patients were identified. For treatment studies, 52 eyes were in the treated group and 14 eyes in the untreated ME group. Mean follow-up was 5.3 exams (3.7, 6.9) over 2.3 years (1.7, 3.0). Software validation compared automated and manual IRF segmentation of 490 image pairs, finding a Dice coefficient of 0.928 (95% confidence interval: 0.92‒0.99). Cohort mean IRF volume was 230.85 nL (57.42, 403.91) at baseline. Intraretinal fluid change in eyes treated with topical carbonic anhydrase inhibitors was -2.1 nL/year ( P = 0.81). Oral acetazolamide-treated eyes had significant IRF reduction (-33.6 nL/year, P = 0.009) and significant improvements in best-corrected visual acuity (logMAR/year; Early Treatment Diabetic Retinopathy Study letters equivalent) (-0.041; +2 letters) ( P = 0.025).

Conclusion: A deep learning tool was able to rapidly and accurately quantify IRF in retinitis pigmentosa-associated ME. Using this analysis tool, we confirmed that treatment with acetazolamide led to significant reduction in long-term IRF. Structural changes (IRF) only translated to significant functional improvements (best-corrected visual acuity) in eyes treated with acetazolamide.