Patient-Reported Social Impact of Molecularly Confirmed Retinitis Pigmentosa DOI Open Access

Nina Zehe-Lindau,

Birgit Lindau,

Heidi Stöhr

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(9), P. 3229 - 3229

Published: May 6, 2025

Objectives: To evaluate the patient-reported impact of retinitis pigmentosa (RP) in a large patient cohort to identify relevant disease-related disadvantages as key aspects for improvement ophthalmic and social care. Methods: Consecutive patients with molecularly confirmed RP older than 18 years age were identified two tertiary care centers Germany. Patients contacted participate an anonymized query regarding on their vocational training, professional career, social, familial, personal life, well experience ophthalmologic Results: Out 241 patients, 162 responded (67.2%; 52.5% female, 67.3% younger 50 age). While training was limited, careers frequently disrupted early retirement rates 39.8% (≥40 age) 50% (≥50 Most respondents felt restricted participation public life (66.3%). One-fifth complained about financial restrictions; however, one-third this number did not obtain help. A negative familial (21.4%) less reported compared impairments, especially anxiety (74.5%) depression (24.2%). considered adequate; delayed diagnosis (≥two years: 28.6%) initial misdiagnosis (24.0%) frequent. Insufficient psychological support major complaint Conclusions: affects lives multiple aspects. Ophthalmic providers should focus acceleration diagnostic process, easy access assistance support, areas improvement. Improvements these are expected reduce challenges patients. They have rehabilitation, quality life.

Language: Английский

Insights into eye genetics and recent advances in ocular gene therapy DOI Creative Commons
Viktória Szabó, Balázs Varsányi,

Mirella Telles Salgueiro Barboni

et al.

Molecular and Cellular Probes, Journal Year: 2025, Volume and Issue: 79, P. 102008 - 102008

Published: Jan. 18, 2025

Language: Английский

Citations

2
Retinitis Pigmentosa: From Pathomolecular Mechanisms to Therapeutic Strategies DOI Creative Commons
Enzo Maria Vingolo,

Simona Mascolo,

Filippo Miccichè

et al.

Medicina, Journal Year: 2024, Volume and Issue: 60(1), P. 189 - 189

Published: Jan. 22, 2024

Retinitis pigmentosa is an inherited disease, in which mutations different types of genes lead to the death photoreceptors and loss visual function. Although retinitis most common type retinal dystrophy, a clear line therapy has not yet been defined. In this review, we will focus on therapeutic aspect attempt define advantages disadvantages protocols therapies. The role some therapies, such as antioxidant agents or gene therapy, established for years now. Many clinical trials causing RP have conducted, approval voretigene nepavorec by FDA important step forward. Nonetheless, even if promising treatment these patients, other innovative strategies, stem cell transplantation hyperbaric oxygen shown be safe improve quality during trials. disease remains challenge, hope find solution soon possible.

Language: Английский

Citations

11
Modeling sacsin depletion in Danio Rerio offers new insight on retinal defects in ARSACS DOI Creative Commons
Valentina Naef, Devid Damiani, Rosario Licitra

et al.

Neurobiology of Disease, Journal Year: 2025, Volume and Issue: unknown, P. 106793 - 106793

Published: Jan. 1, 2025

Biallelic mutations in the SACS gene, encoding sacsin, cause early-onset autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disease also characterized by unique and poorly understood retinal abnormalities. While two murine models replicate phenotypic neuronal features observed patients, no phenotype has been described so far. In zebrafish knock-out strain that faithfully mirrors main aspects ARSACS, we impaired visual function due to photoreceptor degeneration, likely caused cell cycle defects progenitor cells. RNA-seq analysis embryos revealed dysfunction proteins related fat-soluble vitamins (e.g., TTPA, RDH5, VKORC) suggested key role neuroinflammation driving defects. Our findings indicate studying pathology ARSACS could be crucial for understanding impact sacsin depletion may offer insights into halting progression.

Language: Английский

Citations

1
Pre-Clinical and Clinical Advances in Gene Therapy of X-Linked Retinitis Pigmentosa: Hope on the Horizon DOI Open Access

Nadezhda A. Pechnikova,

M. Poimenidou,

Ioannis V. Iliadis

et al.

Journal of Clinical Medicine, Journal Year: 2025, Volume and Issue: 14(3), P. 898 - 898

Published: Jan. 29, 2025

X-linked retinitis pigmentosa (XLRP) is a severe inherited retinal degenerative disease characterized by progressive loss of photoreceptors and pigment epithelium, leading to blindness. Predominantly affecting males due mutations in the RPGR gene, XLRP currently lacks effective treatments beyond supportive care. Gene therapy has emerged as promising approach restore photoreceptor function delivering functional copies gene. Recent clinical trials using AAV vectors, such AAV5-RPGR AGTC-501, have demonstrated encouraging results, including improvements sensitivity visual function. While early successes like LUXTURNA set precedent for gene diseases, adapting these strategies presents unique challenges complexity need efficient targeting. Advances vector design, use optimized serotypes with enhanced tropism specific promoters, significantly improved delivery. Despite setbacks some studies, ongoing research continue refine therapies, offering hope patients affected XLRP. This review explores etiology pathophysiology XLRP, evaluates current treatment challenges, highlights recent advances therapy, discusses future perspectives bringing therapies into practice.

Language: Английский

Citations

1
Extracellular vesicles in degenerative retinal diseases: A new therapeutic paradigm DOI Creative Commons

Federico Manai,

Adrian Smędowski, Kai Kaarniranta

et al.

Journal of Controlled Release, Journal Year: 2023, Volume and Issue: 365, P. 448 - 468

Published: Dec. 2, 2023

Nanoscale extracellular vesicles (EVs), consisting of exomers, exosomes and microvesicles/ectosomes, have been extensively investigated in the last 20 years, although their biological role is still something a mystery. EVs are involved transfer lipids, nucleic acids proteins from donor to recipient cells or distant organs as well regulating cell-cell communication signaling. Thus, important intercellular this not limited sister cells, but may also mediate crosstalk between different cell types even over long distances. play crucial functions both cellular homeostasis pathogenesis diseases, since contents reflect status cell, they represent an additional valuable source information for characterizing complex processes. Recent advances isolation analytical methods led substantial improvements engineering EVs, leading use either novel biomarkers disease diagnosis/prognosis therapies. Due capacity carry biomolecules, various EV-based therapeutic applications devised several pathological conditions, including eye diseases. In eye, detected retina, aqueous humor, vitreous body tears. Experiences with other forms intraocular drug opened new ways treatment retinal We here provide comprehensive summary main vitro, vivo, ex vivo literature-based studies on EVs' ocular physiological conditions. focused age-related macular degeneration, diabetic retinopathy, glaucoma, which common diseases permanent blindness, if treated properly. addition, putative retinitis pigmentosa retinopathies discussed. Finally, we reviewed potential tools and/or above-mentioned disorders. Evidence emerging experimental models human material strongly suggests future diagnostic exploitation these agents disorders good possibility improve patient's quality life.

Language: Английский

Citations

20
Injectable hydrogels based on biopolymers for the treatment of ocular diseases DOI

Caiyu Yu,

Jiahao Xu, Golnaz Heidari

et al.

International Journal of Biological Macromolecules, Journal Year: 2024, Volume and Issue: 269, P. 132086 - 132086

Published: May 3, 2024

Language: Английский

Citations

7
Ocular RNA nanomedicine: engineered delivery nanoplatforms in treating eye diseases DOI
Yiming Zhang,

Yesi Shi,

Muhammad Munif Khan

et al.

Trends in biotechnology, Journal Year: 2024, Volume and Issue: 42(11), P. 1439 - 1452

Published: May 31, 2024

Language: Английский

Citations

7
A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR) DOI Creative Commons
Berith M. Balfoort, Filip Van den Broeck, Marion M. Brands

et al.

Graefe s Archive for Clinical and Experimental Ophthalmology, Journal Year: 2024, Volume and Issue: unknown

Published: June 7, 2024

Abstract Purpose Gyrate atrophy of the choroid and retina (GACR) is an autosomal recessive inherited metabolic disorder (IMD) characterised by progressive retinal degeneration, leading to severe visual impairment. The rapid developments in ophthalmic genetic therapies warrant knowledge on clinical phenotype eligible diseases such as GACR define future therapeutic parameters trials. Methods Retrospective chart analysis was performed nineteen patients. Data were analysed using IBM SPSS Statistics version 28.0.1.1. Results Nineteen patients included with a mean age 32.6 years (range 8–58). Mean at onset symptoms 7.9 3–16). Median logMAR acuity inclusion 0.26 -0.18–3.00). cataract surgery 28.8 ( n = 11 patients). spherical equivalent refractive error -8.96 -20.87 -2.25). Cystoid maculopathy present 68% patients, loss integrity foveal ellipsoid zone (EZ) 24/38 eyes. Of 14 treated dietary protein restriction, four who started diet before 10 showed most benefit. Conclusion This study demonstrates disease course associated GACR, well possible benefit early treatment. In addition loss, experience myopia, early-onset cataract, CME. There EZ young age, emphasising need for diagnosis enabling current interventions.

Language: Английский

Citations

5
Exploring anterion capsular contraction syndrome in cataract surgery: insights into pathogenesis, clinical course, influencing factors, and intervention approaches DOI Creative Commons

Xuanqiao Lin,

Dongmei Ma, Jin Yang

et al.

Frontiers in Medicine, Journal Year: 2024, Volume and Issue: 11

Published: Feb. 19, 2024

Anterior capsular contraction syndrome (ACCS) is a challenging complication that can occur following phacoemulsification cataract surgery. Characterized by bag wrinkling, intraocular lens (IOL) decentration and tilt, ACCS have negative effects on visual outcomes patient satisfaction. This review aims to investigate the pathogenesis, clinical course, influencing factors, intervention approaches for after By understanding underlying mechanisms identifying factors contribute ACCS, surgeons enhance their ability predict manage this complication. Various strategies are discussed, highlighting importance in reducing complications improving surgical outcomes. However, further research needed determine optimal prevention management through long-term follow-up comparative analyses. Advancements field will ultimately lead improved optimized surgery patients.

Language: Английский

Citations

4
Incidence and Risk of Depressive Disorder in Patients With Retinitis Pigmentosa DOI
Hae Rang Kim, Nang Kyeong Lee,

Youngsong Suh

et al.

JAMA Ophthalmology, Journal Year: 2024, Volume and Issue: unknown

Published: Sept. 19, 2024

There is a lack of large-scale clinical studies exploring mental health among patients with retinitis pigmentosa (RP). Additionally, few have evaluated the associations visual impairment in young patients.

Language: Английский

Citations

4