PubMed:39277603 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/39277603","sourcedb":"PubMed","sourceid":"39277603","source_url":"https://www.ncbi.nlm.nih.gov/pubmed/39277603","text":"Current management of inherited retinal degenerations in Portugal (IRD-PT survey).\nInherited 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.","tracks":[{"project":"mondo_disease","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Disease"},{"id":"T2","span":{"begin":67,"end":70},"obj":"Disease"},{"id":"T3","span":{"begin":83,"end":112},"obj":"Disease"},{"id":"T4","span":{"begin":128,"end":132},"obj":"Disease"},{"id":"T5","span":{"begin":159,"end":176},"obj":"Disease"},{"id":"T6","span":{"begin":200,"end":209},"obj":"Disease"},{"id":"T7","span":{"begin":457,"end":461},"obj":"Disease"},{"id":"T8","span":{"begin":529,"end":532},"obj":"Disease"},{"id":"T9","span":{"begin":598,"end":601},"obj":"Disease"},{"id":"T10","span":{"begin":777,"end":780},"obj":"Disease"},{"id":"T11","span":{"begin":910,"end":940},"obj":"Disease"},{"id":"T12","span":{"begin":1023,"end":1026},"obj":"Disease"},{"id":"T13","span":{"begin":1037,"end":1040},"obj":"Disease"},{"id":"T14","span":{"begin":1554,"end":1557},"obj":"Disease"},{"id":"T15","span":{"begin":1601,"end":1604},"obj":"Disease"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/MONDO_0004580"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"http://purl.obolibrary.org/obo/MONDO_0019118"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"http://purl.obolibrary.org/obo/MONDO_0009971"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"http://purl.obolibrary.org/obo/MONDO_0001941"},{"id":"A6","pred":"mondo_id","subj":"T6","obj":"http://purl.obolibrary.org/obo/MONDO_0001941"},{"id":"A7","pred":"mondo_id","subj":"T7","obj":"http://purl.obolibrary.org/obo/MONDO_0009971"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"http://purl.obolibrary.org/obo/MONDO_0007369"},{"id":"A9","pred":"mondo_id","subj":"T9","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"id":"A10","pred":"mondo_id","subj":"T10","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"http://purl.obolibrary.org/obo/MONDO_0020240"},{"id":"A12","pred":"mondo_id","subj":"T12","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"id":"A13","pred":"mondo_id","subj":"T13","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"id":"A14","pred":"mondo_id","subj":"T14","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"id":"A15","pred":"mondo_id","subj":"T15","obj":"http://purl.obolibrary.org/obo/MONDO_0019174"},{"subj":"T1","pred":"source","obj":"mondo_disease"},{"subj":"T2","pred":"source","obj":"mondo_disease"},{"subj":"T3","pred":"source","obj":"mondo_disease"},{"subj":"T4","pred":"source","obj":"mondo_disease"},{"subj":"T5","pred":"source","obj":"mondo_disease"},{"subj":"T6","pred":"source","obj":"mondo_disease"},{"subj":"T7","pred":"source","obj":"mondo_disease"},{"subj":"T8","pred":"source","obj":"mondo_disease"},{"subj":"T9","pred":"source","obj":"mondo_disease"},{"subj":"T10","pred":"source","obj":"mondo_disease"},{"subj":"T11","pred":"source","obj":"mondo_disease"},{"subj":"T12","pred":"source","obj":"mondo_disease"},{"subj":"T13","pred":"source","obj":"mondo_disease"},{"subj":"T14","pred":"source","obj":"mondo_disease"},{"subj":"T15","pred":"source","obj":"mondo_disease"}]},{"project":"HP-phenotype","denotations":[{"id":"T1","span":{"begin":32,"end":53},"obj":"Phenotype"},{"id":"T2","span":{"begin":93,"end":112},"obj":"Phenotype"},{"id":"T3","span":{"begin":159,"end":176},"obj":"Phenotype"},{"id":"T4","span":{"begin":200,"end":209},"obj":"Phenotype"},{"id":"T5","span":{"begin":920,"end":940},"obj":"Phenotype"}],"attributes":[{"id":"A1","pred":"hp_id","subj":"T1","obj":"HP:0000546"},{"id":"A2","pred":"hp_id","subj":"T2","obj":"HP:0000556"},{"id":"A3","pred":"hp_id","subj":"T3","obj":"HP:0000505"},{"id":"A4","pred":"hp_id","subj":"T4","obj":"HP:0000618"},{"id":"A5","pred":"hp_id","subj":"T5","obj":"HP:0000510"},{"subj":"T1","pred":"source","obj":"HP-phenotype"},{"subj":"T2","pred":"source","obj":"HP-phenotype"},{"subj":"T3","pred":"source","obj":"HP-phenotype"},{"subj":"T4","pred":"source","obj":"HP-phenotype"},{"subj":"T5","pred":"source","obj":"HP-phenotype"}],"namespaces":[{"prefix":"HP","uri":"http://purl.obolibrary.org/obo/HP_"}]},{"project":"Anatomy-UBERON","denotations":[{"id":"T1","span":{"begin":1013,"end":1016},"obj":"Body_part"}],"attributes":[{"id":"A1","pred":"uberon_id","subj":"T1","obj":"http://purl.obolibrary.org/obo/UBERON_0006015"},{"subj":"T1","pred":"source","obj":"Anatomy-UBERON"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"mondo_disease","color":"#93ecd4","default":true},{"id":"HP-phenotype","color":"#ecba93"},{"id":"Anatomy-UBERON","color":"#a093ec"}]}]}}