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

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.

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Publication Details

Journal
Scientific Reports
Published
2024-09-14
DOI
https://doi.org/10.1038/s41598-024-72589-4
Citations
6
Primary Topic
Retinal Diseases and Treatments
Type
article
Field-Weighted Citation Impact
3.23
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article

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

Filipa Gomes Rodrigues, Natacha Moreno, Lilianne Duarte, José Costa et al.
6 citations
Scientific Reports
Retinal Diseases and Treatments
3.23
article

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

Filipa Gomes Rodrigues, Natacha Moreno, Lilianne Duarte, José Costa, Marta Lacasta Macedo, Inês Coutinho, Raquel Martins, Ana Marta, Filipe Isidro, Sara Vaz-Pereira, Dália Meira, André Coutinho, Carlos Menezes, Diogo Cabral, Sérgio Brito, Pedro Arede, João Pedro Marques, João Paulo Castro Sousa, Joana Pires, Nuno Ferreira, Sérgio Estrela‐Silva, Filipa Rodrigues, Miguel Ribeiro, Pedro P. Neves, Marco Marques, Ana Rocha Cardoso, Eduardo Gabriel Dantas Silva
article en
6 citations

Abstract

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.

Scientific ReportsVol. 14(1)
Universidade Politécnica de Castelo Branco (PT), University of Trás-os-Montes and Alto Douro (PT), Instituto Politécnico de Leiria (PT), Hospitais da Universidade de Coimbra (PT), Hospital de São João (PT), Unidade Local de Saúde de Entre Douro e Vouga (PT), Novartis (China) (CN), Administração Regional de Saúde de Lisboa e Vale do Tejo (PT), Algarve Biomedical Center (PT), Centro Hospitalar de Lisboa Ocidental (PT), Hospital de Santo António (PT), Hospital Braga (PT), Hospital de Santa Maria (PT), Unidade Hospitalar de Bragança (PT), Hospital Dr. Nélio Mendonça (PT), University of Algarve (PT), Universidade Nova de Lisboa (PT)
Openalex Percentile: Top 8%
Retinal Diseases and Treatments
3.23
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