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Background: Retinitis pigmentosa (RP), an inherited retinal disease, is characterized by progressive vision loss driven by the gradual degeneration of retinal photoreceptors. This process manifests as impaired dark adaptation, night blindness, constriction of the visual field, and the deterioration of central vision. Although the progression can be monitored by electroretinography (ERG), visual field (VF) tests and optical coherence tomography (OCT) to some extent, it's hard to achieve high repeatability. Considering the correlation between patients' retinal blood volume and their visual function, OCT angiography (OCTA) can be a good choice for monitoring RP progression by objectively quantifying vascular changes.
Methods: This study included 62 patients and 21 matched controls. Patients with RP were classified into five groups based on their genotype (CYP4V2, EYS, PRPH2, RPGR, and USH2A). Quantitative measurements and analyses were performed in nine fields of the fundus.
Results: Defects were observed in each layer among all RP groups, showing different patterns of damage to the vasculature of the SCP, DCP, CC, and MLC. Foveal avascular zone (FAZ) sizes of the SCP and DCP in CYP4V2 and EYS groups, respectively, were larger than those in healthy individuals; PDs were associated with retinal function in each group. The CVI decreased to various degrees based on genotype and was associated with retinal function.
Conclusion: Patients with RP had decreased PDs in the retina and choroid. PDs correlated with specific genotypes and retinal functions. SS-OCTA may be a non-invasive method for detecting the severity of RP.
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http://dx.doi.org/10.1186/s40942-025-00706-0 | DOI Listing |
Eye (Lond)
September 2025
Genetics Laboratory, Metropolitan South Clinical Laboratory, Bellvitge University Hospital, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Background: Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and functional assays to improve diagnostic yield in unresolved cases.
Subjects/methods: We retrospectively reviewed a cohort of 597 individuals with IRDs, including 525 probands and 72 affected relatives.
J Med Econ
September 2025
Janssen Scientific Affairs, LLC, Titusville, New Jersey.
Objectives: To provide insights into the financial burden and opportunity cost of vision loss from retinitis pigmentosa (RP) in the US by using net present value (NPV) of direct medical and nonmedical costs.
Methods: Assumptions, including economic (discount rate, median income, cost-of-living, Social Security and Medicare taxes, public insurance/supplemental benefits, nutrition assistance, and prescription drug assistance), medical (federal National Health Expenditure tables, a recent retrospective claims analysis, and Optum Health claims database) and demographic (mortality rate, increase in mortality due to visual impairment, progression of blindness, probability of survival, retirement rate, rate of disability, and RP diagnosis probability) were made to develop a NPV model. Scenario analyses were performed on benefits and costs arising from patients with RP, if vision could be preserved via novel gene therapies.
Graefes Arch Clin Exp Ophthalmol
September 2025
Department of Ophthalmology, Emory University School of Medicine, 1365B Clifton Road, NE, Suite 2400, Atlanta, GA, 30322, USA.
Purpose: Congenital X-linked retinoschisis (XLRS) has limited treatment options. Gene augmentation via pars plana vitrectomy (PPV) and subretinal RS1 gene delivery is promising, yet it is unclear how PPV may impact outcomes. We explored literature to better understand PPV outcomes in XLRS.
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July 2025
Japan Community Healthcare Organization, Tokyo, Japan.
Purpose: We report the efficacy and safety of voretigene neparvovec (VN) as an adeno-associated viral vector-based gene therapy for Japanese patients with inherited retinal dystrophy caused by biallelic pathogenic variants (-retinopathy).
Design: Open-label, single arm, phase III clinical trial.
Participants: Four subjects were recruited based on the following criteria: (1) a clinical and molecular genetic diagnosis of -retinopathy; (2) age ≥4 years; (3) a best-corrected VA (BCVA) worse than 20/60 or a visual field (VF) <20° by a III4e isopter or equivalent; and (4) sufficient viable retinal cells by OCT or ophthalmoscopy.
Exp Eye Res
September 2025
Department of Ophthalmology, The First Affiliated Hospital of Soochow University, Suzhou, China. Electronic address:
Retinitis pigmentosa (RP) is an inherited retinal degenerative disease characterized by progressive retinal pigment epithelium dysfunction and photoreceptor apoptosis, yet its pathogenesis remains unclear and no cure exists. Emerging evidence implicates the role of tryptophan metabolism in neuroinflammatory processes, prompting our investigation of serum tryptophan metabolites in RP patients versus healthy controls. Through targeted metabolomic profiling and clinical characterization, including age of onset, best corrected visual acuity (BCVA) and retinal thickness, we identified significant alterations in RP patients: marked decreases in cinnabarinic acid, xanthurenic acid, quinolinic acid and indole-3-carboxaldehyde (all p < 0.
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