Inherited Retinal Degenerations in Portugal: Addressing the Unmet Needs

Marques, João Pedro; Pires, Joana; Costa, José Ferreira; Murta, Joaquim; Silva, Rufino

doi:10.20344/amp.15802

Cited by 4 publications

(3 citation statements)

References 9 publications

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“…Access should be improved or guaranteed. It is also important to sensibilize doctors about these diseases and the need for regular follow-up for continuous visual rehabilitation, as well as psychological support, due to the progressive course of most IRD types [ 17 ].…”

Section: Discussionmentioning

confidence: 99%

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The socioeconomic epidemiology of inherited retinal diseases in Portugal

Marta,

Marques,

Santos

et al. 2024

Orphanet J Rare Dis

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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 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 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.

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Section: Discussionmentioning

confidence: 99%

“…Epidemiological studies of IRD in Portugal are scarce [16,17]. The creation of a national database helped to identify those patients, and several publications resulted of this joint multicentre collaboration in Portugal [18][19][20][21].…”

Section: Orphanet Journal Of Rare Diseasesmentioning

confidence: 99%

The socioeconomic epidemiology of inherited retinal diseases in Portugal

Marta,

Marques,

Santos

et al. 2024

Orphanet J Rare Dis

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“…Genetic profiling of IRDs is of major importance for patients and, through genetic counseling, for family members as well. Nevertheless, constraints in access to genetic testing may hinder the goal of obtaining a molecular diagnosis for every affected patient [17]. A paradigm shift is in progress, with a recent increase in the number of publications contributing to improve knowledge of the genetic landscape of IRDs in Portugal [13,[18][19][20][21][22][23][24].…”

Section: Discussionmentioning

confidence: 99%

Genetic profile of syndromic retinitis pigmentosa in Portugal

Cortinhal,

Santos,

Vaz-Pereira

et al. 2024

Graefes Arch Clin Exp Ophthalmol

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Purpose Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% of patients exhibit extra-ocular manifestations (syndromic RP). Understanding the genetic profile of RP has important implications for disease prognosis and genetic counseling. This study aimed to characterize the genetic profile of syndromic RP in Portugal. Methods Multicenter, retrospective cohort study. Six Portuguese healthcare providers identified patients with a clinical diagnosis of syndromic RP and available genetic testing results. All patients had been previously subjected to a detailed ophthalmologic examination and clinically oriented genetic testing. Genetic variants were classified according to the American College of Medical Genetics and Genomics; only likely pathogenic or pathogenic variants were considered relevant for disease etiology. Results One hundred and twenty-two patients (53.3% males) from 100 families were included. Usher syndrome was the most frequent diagnosis (62.0%), followed by Bardet-Biedl (19.0%) and Senior-Løken syndromes (7.0%). Deleterious variants were identified in 86/100 families for a diagnostic yield of 86.0% (87.1% for Usher and 94.7% for Bardet-Biedl). A total of 81 genetic variants were identified in 25 different genes, 22 of which are novel. USH2A and MYO7A were responsible for most type II and type I Usher syndrome cases, respectively. BBS1 variants were the cause of Bardet-Biedl syndrome in 52.6% of families. Best-corrected visual acuity (BCVA) records were available at baseline and last visit for 99 patients (198 eyes), with a median follow-up of 62.0 months. The mean BCVA was 56.5 ETDRS letters at baseline (Snellen equivalent ~ 20/80), declining to 44.9 ETDRS letters (Snellen equivalent ~ 20/125) at the last available follow-up (p < 0.001). Conclusion This is the first multicenter study depicting the genetic profile of syndromic RP in Portugal, thus contributing toward a better understanding of this heterogeneous disease group. Usher and Bardet-Biedl syndromes were found to be the most common types of syndromic RP in this large Portuguese cohort. A high diagnostic yield was obtained, highlighting current genetic testing capabilities in providing a molecular diagnosis to most affected individuals. This has major implications in determining disease-related prognosis and providing targeted genetic counseling for syndromic RP patients in Portugal.

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

Marques,

Ferreira,

Moreno

et al. 2024

Sci Rep

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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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Inherited Retinal Degenerations in Portugal: Addressing the Unmet Needs

Abstract: N/a.

Cited by 4 publications

References 9 publications

The socioeconomic epidemiology of inherited retinal diseases in Portugal

The socioeconomic epidemiology of inherited retinal diseases in Portugal

Genetic profile of syndromic retinitis pigmentosa in Portugal

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

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