Current management of inherited retinal degenerations in Portugal (IRD-PT survey).

Autor: Marques JP; Ophthalmology Department, Unidade Local de Saúde (ULS) de Coimbra, EPE, Coimbra, Portugal. marquesjoaopedro@gmail.com.; Ophthalmology Department, Unidade Local de Saúde (ULS) de Coimbra, EPE, Praceta Prof. Mota Pinto, 3000-075, Coimbra, Portugal. marquesjoaopedro@gmail.com., Ferreira N; Ophthalmology Deparment, Unidade Local de Saúde (ULS) de Trás-os-Montes e Alto Douro, EPE, Vila Real, Portugal., Moreno N; Ophthalmology Department, Unidade Local de Saúde (ULS) de Barcelos/Esposende, EPE, Barcelos, Portugal., Marta A; Ophthalmology Department, Unidade Local de Saúde (ULS) de Santo António, EPE, Porto, Portugal., Vaz-Pereira S; Ophthalmology Department, Unidade Local de Saúde (ULS) de Santa Maria, EPE, Lisboa, Portugal., Estrela-Silva S; Ophthalmology Department, Unidade Local de Saúde (ULS) de São João, EPE, Porto, Portugal., Costa J; Ophthalmology Department, Unidade Local de Saúde (ULS) de Braga, EPE, Braga, Portugal., Cardoso AR; Ophthalmology Department, Unidade Local de Saúde (ULS) do Baixo Alentejo, EPE, Beja, Portugal., Neves P; Ophthalmology Department, Unidade Local de Saúde (ULS) da Arrábida, EPE, Setúbal, Portugal., Duarte L; Ophthalmology Department, Unidade Local de Saúde (ULS) de Entre Douro e Vouga, EPE, Santa Maria da Feira, Portugal., Meira D; Ophthalmology Department, Unidade Local de Saúde (ULS) de Gaia/Espinho, EPE, Gaia, Portugal., Pires J; Ophthalmology Department, Unidade Local de Saúde (ULS) do Alto Ave, EPE, Guimarães, Portugal., Menezes C; Ophthalmology Department, Unidade Local de Saúde (ULS) do Alto Minho, EPE, Viana Do Castelo, Portugal., Rodrigues F; Ophthalmology Department, Unidade Local de Saúde (ULS) do Litoral Alentejano, EPE, Santiago Do Cacém, Portugal., Arede P; Ophthalmology Department, Unidade Local de Saúde (ULS) de Lisboa Ocidental, EPE, Lisboa, Portugal., Coutinho A; Ophthalmology Department, Unidade Local de Saúde (ULS) da Região de Aveiro, EPE, Aveiro, Portugal., Cabral D; Ophthalmology Department, Unidade Local de Saúde (ULS) de Almada-Seixal, EPE, Lisboa, Portugal., Coutinho I; Ophthalmology Department, Unidade Local de Saúde (ULS) de Amadora/Sintra, EPE, Amadora, Portugal., Ribeiro M; Ophthalmology Department, Unidade Local de Saúde (ULS) de Viseu Dão-Lafões, EPE, Viseu, Portugal., Macedo M; Ophthalmology Department, Hospital Dr. Nélio Mendonça, EPE, Funchal, Portugal., Brito S; Ophthalmology Department, Unidade Local de Saúde (ULS) de Castelo Branco, EPE, Castelo Branco, Portugal., Isidro F; Ophthalmology Department, Unidade Local de Saúde (ULS) do Algarve, EPE, Faro, Portugal., Rodrigues FG; Ophthalmology Department, Unidade Local de Saúde (ULS) do Estuário do Tejo, EPE, Vila Franca de Xira, Portugal., Sousa JPC; Ophthalmology Department, Unidade Local de Saúde (ULS) da Região de Leiria, EPE, Leiria, Portugal., Marques M; Ophthalmology Department, Unidade Local de Saúde (ULS) do Baixo Mondego, EPE, Figueira da Foz, Portugal., Martins R; Novartis, Portugal., Silva E; Ophthalmology Department, Unidade Local de Saúde (ULS) de São José, EPE, Lisboa, Portugal.
Jazyk: angličtina
Zdroj: Scientific reports [Sci Rep] 2024 Sep 14; Vol. 14 (1), pp. 21473. Date of Electronic Publication: 2024 Sep 14.
DOI: 10.1038/s41598-024-72589-4
Abstrakt: Inherited retinal dystrophies/degenerations (IRDs) are the leading cause of visual impairment and incurable familial blindness in the Western world. Given the clinical and genetic heterogeneity, establishing a molecular diagnosis is especially relevant. The aim of this study was to perform the first nationwide survey to understand the prevalence and current management of IRDs in Portugal. A response was obtained from 26 healthcare providers (HCP) (76.5% response rate). Only 4 respondents reported not managing IRD patients. Most HCPs (68.1%) reported managing up to 100 patients, while three currently manage between 501 and 1000 patients. Based on the Portuguese population, an estimated IRD prevalence of 0.031%, i.e., about 1 in 3000 individuals, was calculated. In most HCPs (86.3%), most patients are adults, and non-syndromic retinitis pigmentosa is the most frequent diagnosis. Only 4 HCPs currently use the national, web-based IRD registry (IRD-PT). However, all but one respondent expressed interest in participating in such a registry. Genetic testing is available in 54.5%, with 58.3% HCPs reporting solved rates between 61-80%, but 4 to 9 months to get a genetic test result in 83.4% of cases. Based on this survey, the prevalence of biallelic RPE65-associated disease in Portugal is 0.00031%, i.e., approximately 1:300,000 individuals. Data from this study provide vital background information on national differences in the diagnosis and management of IRD patients. Nationwide implementation of the IRD-PT registry should be encouraged and supported to provide population-based reference data and to identify patients eligible for current and future therapies.
(© 2024. The Author(s).)
Databáze: MEDLINE
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