Background: Retinitis pigmentosa (RP) is a group of hereditary retinal dystrophies characterized by progressive degeneration of photoreceptor cells, which results in debilitating visual impairment. This systematic review aims to evaluate the efficacy and safety of emerging treatment modalities for RP, including gene therapy, mesenchymal-cell-based approaches, and supplementary interventions. Methods: A comprehensive search of electronic databases was conducted to identify relevant studies published up to February 2024. Studies reporting outcomes of treatment interventions for RP, including randomized controlled trials, non-randomized studies, and case series, were included. Data extraction and synthesis were performed according to predefined criteria, focusing on assessing the quality of evidence and summarizing key findings. Results: The search yielded 13 studies meeting inclusion criteria, encompassing diverse treatment modalities and study designs. Gene therapy emerged as a promising therapeutic approach, with several studies reporting favorable outcomes regarding visual function preservation and disease stabilization. Mesenchymal-cell-based therapies also demonstrated potential benefits, although evidence remains limited and heterogeneous. Supplementary interventions, including nutritional supplements and neuroprotective agents, exhibited variable efficacy, with conflicting findings across studies. Conclusions: Despite the lack of definitive curative treatments, emerging therapeutic modalities promise to slow disease progression and preserve visual function in individuals with RP. However, substantial gaps in evidence and heterogeneity in study methodologies underscore the need for further research to elucidate optimal treatment strategies, refine patient selection criteria, and enhance long-term outcomes. This systematic review provides a comprehensive synthesis of current evidence and highlights directions for future research to advance the care and management of individuals with RP.
12 April 2006 in Graefe's Archive for Clinical and Experimental Ophthalmology
Purpose: To evaluate the safety and efficacy of intravitreal bevacizumab (IVB) to treat choroidal neovascularization (CNV) in patients with angioid streaks. Methods: Retrospective chart review of 16 eyes of 10 patients treated with IVB for CNV secondary to angioid streaks between November 2005 and November 2011. Intravitreal bevacizumab was performed in all patients with a pro re nata regimen. Seven eyes received an additional photodynamic therapy and 1 eye argon laser photocoagulation. The diagnosis of CNV was confirmed by fluorescein angiography (FA) and indocyanine green (ICG) angiography; central macular thickness (CMT) was evaluated by optical coherence tomography. Outcome measures included changes in best-corrected visual acuity, retinal thickness, and degree of leakage on FA and ICG angiography. Results: The median number of IVB was 2.5 (range 1-6) during a mean follow-up of 52 months (range 30-67). Risk of recurrence increased during the first 50 weeks; then it remained stable. In 6 of 16 eyes, the CNV was obliterated with a single injection. Increasing CNV reactivation corresponded with an increased number of injections. Final visual acuity was related to initial VA and not to number of injections or shorter follow-up. Previous treatments, CMT, or baseline CNV size were not related to final visual acuity. Conclusions: Intravitreal bevacizumab proved to be well-tolerated in patients with CNV secondary to angioid streaks and in our small cohort IVB was efficacious for long-term follow-up. Larger series of patients are needed to confirm the effects of this treatment.
Purpose: To characterize, using clustering analysis, the OCT morphological and clinical phenotypes of diabetic macular edema (DME) in a very large population (>2000 DME eyes) using standardized and validated OCT-based biomarkers. Methods: A cross-sectional study was conducted on OCT scans collected from 2355 eyes of 1688 patients with DME and performed during real-world clinical practice. OCT scans were automatically analyzed by a software able to automatically quantify OCT key biomarkers: intraretinal fluid (IRF), subretinal fluid (SRF), hyperreflective retinal foci (I-HRF), and external limiting membrane (ELM) and ellipsoid zone (EZ) interruption. Clustering analysis was performed using the above-mentioned biomarkers, including the distribution of IRF across the three ETDRS rings. Results: The overall population was predominantly composed of type 2 diabetes patients (89%), with a mean diabetes duration of 15.6 ± 10.7 years and mean best corrected visual acuity (BCVA) of 63 ± 18 ETDRS letters. Multivariate clustering identified four morphological phenotypes with distinct patterns of fluid distribution associated with different I-HRF counts, SRF volume, and percentages of ELM/EZ integrity (p < 0.0001). Conclusions: This large OCT analysis identified distinct morphological subtypes of DME, confirming the clinical relevance of key imaging biomarkers. The distribution and severity of DME features differ among clusters, supporting the importance of OCT-based phenotyping in tailoring treatment strategies and understanding disease evolution.
18 August 2016 in Ocular Immunology and Inflammation
Introduction: Paraneoplastic clinical signs are characterized by a large and heterogeneous variety of manifestations due to several possible underlying neoplasms. Paraneoplastic pemphigus (PNP) is a particular paraneoplastic variety that usually primarily affects the dermic and/or oral mucosa and is characterized by a high rate of mortality (90%). Therefore, it is important to recognize its possible signs early. This report describes a case of ocular paraneoplastic pemphigus (PNP) presenting with recalcitrant eyelid ulceration and hyperemic conjunctivitis caused by an undiagnosed prostate cancer. Methods: A 77-year-old man was admitted to our department because of recalcitrant hyperemic conjunctivitis in both eyes, complicated with large ulceration of both upper eyelids in spite of topical therapy. After 3 weeks, oral mucositis and bullous dermatitis on the chest and arms developed. Results: Complete slit lamp ocular study, conjunctival swabs, routine hematologic tests, serum neoplasm markers, indirect immunofluorescence study, immunoblotting, and oral mucose biopsy with direct immunofluorescence were performed under the hypothesis of a paraneoplastic sign. Total body computed tomography scan and ultrasound-guided needle prostate biopsy completed the diagnostic process and confirmed the diagnosis of prostate PNP. Complete remission of ocular clinical signs was achieved by treatment of the prostate malignancy with systemic immunosuppressive therapy and chemotherapy.