The socioeconomic epidemiology of inherited retinal diseases in Portugal.
Economics
Epidemiology
Inherited retinal diseases
Social
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
09 Apr 2024
09 Apr 2024
Historique:
received:
16
05
2023
accepted:
30
03
2024
medline:
10
4
2024
pubmed:
10
4
2024
entrez:
9
4
2024
Statut:
epublish
Résumé
Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures. This study included 1082 patients from 973 families, aged 3 to 92 years, with a mean age of 44.8 ± 18.1 years. Patients living with an IRD were identified in 190 of the 308 municipalities. According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. Overall, regions with a higher prevalence of IRD have a lower population density (r=-0.371, p < 0.001), a higher illiteracy rate (r = 0.404, p < 0.001) and an overall older population (r = 0.475, p < 0.001). Additionally, there is a lower proportion of doctor per capita (r = 0.350, p < 0.001), higher social security pensions beneficiaries (r = 0.439, p < 0.001), worse water quality for human consumption (r=-0.194, p = 0.008), fewer audiences at the cinema (r=-0.315, p < 0.001) and lower proportion of foreign guests in tourist accommodations (r=-0.287, p < 0.001). The number of identified patients with IRD varied between regions. Using data from national statistics (PORDATA), we observed differences in socioeconomic characteristics between regions. Multiple targeted aid strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.
Sections du résumé
BACKGROUND
BACKGROUND
Inherited retinal diseases (IRDs) are a group of rare degenerative disorders of the retina that can lead to blindness from birth to late middle age. Knowing the target population and its resources is essential to better plan support measures. The aim of this study was to evaluate the socioeconomic characteristics of regions in Portugal where IRD patients reside to inform the planning of vision aid and rehabilitation intervention measures.
RESULTS
RESULTS
This study included 1082 patients from 973 families, aged 3 to 92 years, with a mean age of 44.8 ± 18.1 years. Patients living with an IRD were identified in 190 of the 308 municipalities. According to this study, the estimated IRD prevalence in Portugal was 10.4 per 100,000 inhabitants, and by municipalities, it ranged from 0 to 131.2 per 100,000 inhabitants. Overall, regions with a higher prevalence of IRD have a lower population density (r=-0.371, p < 0.001), a higher illiteracy rate (r = 0.404, p < 0.001) and an overall older population (r = 0.475, p < 0.001). Additionally, there is a lower proportion of doctor per capita (r = 0.350, p < 0.001), higher social security pensions beneficiaries (r = 0.439, p < 0.001), worse water quality for human consumption (r=-0.194, p = 0.008), fewer audiences at the cinema (r=-0.315, p < 0.001) and lower proportion of foreign guests in tourist accommodations (r=-0.287, p < 0.001).
CONCLUSION
CONCLUSIONS
The number of identified patients with IRD varied between regions. Using data from national statistics (PORDATA), we observed differences in socioeconomic characteristics between regions. Multiple targeted aid strategies can be developed to ensure that all IRD patients are granted full clinical and socioeconomic support.
Identifiants
pubmed: 38594754
doi: 10.1186/s13023-024-03161-6
pii: 10.1186/s13023-024-03161-6
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
151Informations de copyright
© 2024. The Author(s).
Références
Henderson RH. Inherited retinal dystrophies. Paediatrics Child Health. 2020;30(1):19–27.
doi: 10.1016/j.paed.2019.10.004
Chawla H, Vohra V. Retinal Dystrophies. In: StatPearls. Treasure Island (FL): StatPearls Publishing; 2023 [cited 2023 Apr 2]. http://www.ncbi.nlm.nih.gov/books/NBK564379/ .
Gong J, Cheung S, Fasso-Opie A, Galvin O, Moniz LS, Earle D, et al. The impact of inherited retinal diseases in the United States of America (US) and Canada from a cost-of-illness perspective. Clin Ophthalmol. 2021;15:2855–66.
doi: 10.2147/OPTH.S313719
pubmed: 34234408
pmcid: 8257071
Galvin O, Chi G, Brady L, Hippert C, Del Valle Rubido M, Daly A, et al. The impact of inherited retinal diseases in the Republic of Ireland (ROI) and the United Kingdom (UK) from a cost-of-illness perspective. Clin Ophthalmol. 2020;14:707–19.
doi: 10.2147/OPTH.S241928
pubmed: 32184557
pmcid: 7062501
Bertelsen M, Linneberg A, Rosenberg T. Socio-economic characteristics of patients with generalized retinal dystrophy in Denmark. Acta Ophthalmol. 2015;93(2):134–40.
doi: 10.1111/aos.12467
pubmed: 24953749
Kessel L, Kjellberg J, Nissen K, Rasmussen A, la Cour M. Childhood-onset retinal dystrophies reduces life-time income by one third - an individual based socio-economic analysis. Ophthalmic Genet. 2022;43(5):602–8.
doi: 10.1080/13816810.2022.2089359
pubmed: 35726569
Marta A, Miranda V, Lume M, Parreira R, Azevedo Soares C, Menéres MJ, et al. The visual impairment of inherited retinal diseases in Portugal as per the National table of disabilities. Ophthalmol Sci. 2024;4(3):100443.
doi: 10.1016/j.xops.2023.100443
pubmed: 38304608
Hernández-Moreno L, Senra H, Marques AP, Perdomo NM, Macedo AF. The Basic VRS-Effect Study: clinical trial outcomes and cost-effectiveness of low Vision Rehabilitation in Portugal. Ophthalmol Ther. 2023;12(1):307–23.
doi: 10.1007/s40123-022-00600-0
pubmed: 36369618
Marques AP, Macedo AF, Hernandez-Moreno L, Ramos PL, Butt T, Rubin G, et al. The use of informal care by people with vision impairment. PLoS ONE. 2018;13(6):e0198631.
doi: 10.1371/journal.pone.0198631
pubmed: 29879193
pmcid: 5991749
Portugal| European Blind Union. [cited 2024 Feb 4]. https://www.euroblind.org/convention/article-24/portugal#3 .
Jose J, Thomas J, Bhakat P, Krithica S. Awareness, knowledge, and barriers to low vision services among eye care practitioners. Oman J Ophthalmol. 2016;9(1):37–43.
doi: 10.4103/0974-620X.176099
pubmed: 27013827
pmcid: 4785707
Sivakumar P, Vedachalam R, Kannusamy V, Odayappan A, Venkatesh R, Dhoble P, et al. Barriers in utilisation of low vision assistive products. Eye (Lond). 2020;34(2):344–51.
doi: 10.1038/s41433-019-0545-5
pubmed: 31388131
Stolwijk ML, van Nispen RMA, van der Ham AJ, Veenman E, van Rens GHMB. Barriers and facilitators in the referral pathways to low vision services from the perspective of patients and professionals: a qualitative study. BMC Health Serv Res. 2023;23(1):64.
doi: 10.1186/s12913-022-09003-0
pubmed: 36681848
pmcid: 9860223
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, et al. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications. Sci Rep. 2021;11(1):1526.
doi: 10.1038/s41598-021-81093-y
pubmed: 33452396
pmcid: 7810997
Karali M, Testa F, Di Iorio V, Torella A, Zeuli R, Scarpato M, et al. Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy. Sci Rep. 2022;12(1):20815.
doi: 10.1038/s41598-022-24636-1
pubmed: 36460718
pmcid: 9718770
Peter VG, Kaminska K, Santos C, Quinodoz M, Cancellieri F, Cisarova K, et al. The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis. PNAS Nexus. 2023;2(3):pgad043.
doi: 10.1093/pnasnexus/pgad043
pubmed: 36909829
pmcid: 10003751
Marques JP, Pires J, Costa J, Murta J, Silva R. Inherited retinal degenerations in Portugal: addressing the Unmet needs. Acta Med Port. 2021;34(5):332–4.
doi: 10.20344/amp.15802
pubmed: 33834989
Marques JP, Carvalho AL, Henriques J, Murta JN, Saraiva J, Silva R. Design, development and deployment of a web-based interoperable registry for inherited retinal dystrophies in Portugal: the IRD-PT. Orphanet J Rare Dis. 2020;15(1):304.
doi: 10.1186/s13023-020-01591-6
pubmed: 33109251
pmcid: 7590677
Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, et al. Clinical/Demographic functional testing and Multimodal Imaging differences between genetically solved and Unsolved Retinitis Pigmentosa. Ophthalmologica. 2022;245(2):134–43.
doi: 10.1159/000520305
pubmed: 34695833
Geada S, Santos C, Vaz-Pereira S, Marta A, Correia M, Sousa K, et al. Molecular and Multimodal Retinal Imaging Findings in a multicentric Portuguese cohort of Stargardt Disease. Revista Sociedade Portuguesa De Oftalmologia. 2022;46(1):15–24.
Marques JP, Vaz-Pereira S, Costa J, Marta A, Henriques J, Silva R. Challenges, facilitators and barriers to the adoption and use of a web-based national IRD registry: lessons learned from the IRD-PT registry. Orphanet J Rare Dis. 2022;17(1):323.
doi: 10.1186/s13023-022-02489-1
pubmed: 36028864
pmcid: 9419370
Broadgate S, Yu J, Downes SM, Halford S. Unravelling the genetics of inherited retinal dystrophies: past, present and future. Prog Retin Eye Res. 2017;59:53–96.
doi: 10.1016/j.preteyeres.2017.03.003
pubmed: 28363849
Hanany M, Rivolta C, Sharon D. Worldwide carrier frequency and genetic prevalence of autosomal recessive inherited retinal diseases. Proc Natl Acad Sci. 2020;117(5):2710–6.
doi: 10.1073/pnas.1913179117
pubmed: 31964843
pmcid: 7007541
Quispe-Coica A, Fernández S, Acharte Lume L, Pérez-Foguet A. Status of Water Quality for Human Consumption in High-Andean Rural communities: discrepancies between techniques for identifying Trace metals. J. 2020;3(2):162–80.
Portaria n.o 82/. 2014, de 10 de abril| DRE. [cited 2023 Apr 29]. https://dre.pt/dre/detalhe/portaria/82-2014-25343991 .
pordata. [cited 2023 Apr 7]. https://www.pordata.pt/#AnchorMainHighlights .
Datawrapper. [cited 2023 Apr 7]. https://app.datawrapper.de/ .