Inherited retinal dystrophies (IRDs) affect an estimated 1 in every 2000 people, this corresponding to nearly 2 million cases worldwide. Currently, 270 genes have been associated with IRDs, most of them altering the function of photoreceptors and retinal pigment epithelium. Gene therapy has been proposed as a potential tool for improving visual function in these patients. Clinical trials in animal models and humans have been successful in various types of IRDs. Recently, voretigene neparvovec (Luxturna®) has been approved by the US Food and Drug Administration for the treatment of biallelic mutations in the RPE65 gene. The current state of the art in gene therapy involves the delivery of various types of viral vectors into the subretinal space to effectively transduce diseased photoreceptors and retinal pigment epithelium. For this, subretinal injection is becoming increasingly popular among researchers and clinicians. To date, several approaches for subretinal injection have been described in the scientific literature, all of them effective in accessing the subretinal space. The growth and development of gene therapy give rise to the need for a standardized procedure for subretinal injection that ensures the efficacy and safety of this new approach to drug delivery. The goal of this review is to offer an insight into the current subretinal injection techniques and understand the key factors in the success of this procedure.
(1) Objective: To determine the incidence, visual outcomes and risk factors associated with the recurrence of primary retinal detachment (RD) in a tertiary hospital. (2) Methods: A retrospective observational study was conducted, and data were collected on all eyes diagnosed with primary RD between January 2017 and December 2020. A detailed database was generated with data on anatomic and visual outcomes, and surgical technique information, for all the cases. (3) Results: 570 eyes with primary RD were included. Mean annual incidence of primary RD was 21.8 cases per 100,000 inhabitants. Mean follow-up time was 465 (±410.5) days. Mean time to redetachment was 114.4 (±215.8) days, with the median being 35 days. Statistically significant variables related to a higher risk of recurrence were: male sex (p = 0.04), type of tamponade (p = 0.01), surgeon (p = 0.035), inferonasal (p = 0.002) and inferotemporal (p = 0.032) involvement, complex RD (p < 0.001) and ocular comorbidity (p < 0.001). More satisfactory final visual acuity (VA) in patients not suffering redetachment was associated with shorter duration of central vision loss. (4) Conclusions: Sex, type of tamponade, inferior detachment, RD complexity, surgeon and ocular comorbidity were identified as prognostic factors for recurrence. Worse final postoperative VA was found in patients referring central vision loss for more than 4 days before surgery.
31 January 2025 in Acta Neuropathologica Communications
Parkinson’s disease (PD) is a neurodegenerative disorder primarily characterized by motor symptoms, with emerging evidence suggesting retinal pathology, particularly in the ganglion cell-inner plexiform layer (GCIPL), detectable via optical coherence tomography (OCT). This study aimed to characterize early retinal dynamics in PD using OCT. We conducted a prospective one-year longitudinal multicenter study involving 53 early-stage PD patients with a disease duration of 5 years or less and 52 controls. The participants underwent retinal spectral-domain OCT, primary visual function and cognitive examinations. We examined baseline retinal measures and short-term longitudinal differences between groups via linear mixed effects models. In PD patients, the baseline GCIPL thickness in central regions was increased by up to 4 μm, and the rate of thinning in the parafoveal GCIPL was − 0.61 [0.29] µm/year faster over a one-year follow-up period than in controls in the 2- to 3-mm ring (p = 0.039). In PD patients, greater central GCIPL thickness was associated with poorer contrast sensitivity and reduced performance on the Farnsworth D15 color vision test. It also predicted subsequent thinning in both the GCIPL (2- to 3-mm ring) and the inner nuclear layer (2- to 5-mm rings). However, this increased thickness was not linked to prevalent or progressive motor or cognitive manifestations. In conclusion, this study provides the first detailed topographical description of early retinal dynamics in PD patients, revealing increased central GCIPL thickness and accelerated parafoveal GCIPL thinning in PD. However, the macular region shows complex and variable dynamics among PD patients, but these changes precede detectable progression in clinical scales.