ArticlePNAS nexus2023
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis.
Article in PNAS nexus, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed.
- Widening the Spectrum of Disease Expression due to Heterozygous Variants in EFEMP1.JAMA ophthalmology · 2026Article
- Clinical and Population-Specific Insights Into Inherited Retinal Dystrophies From Whole-Exome Sequencing of the Polish Cohort.Investigative ophthalmology & visual science · 2026Article
- CLUAP1 variants cause non-syndromic retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2026Article
- Identification of a Duplication in the RP17 Locus in an Individual With Pathogenic CEP290 Variants: Implications for RP17 Variant Classification.Investigative ophthalmology & visual science · 2026Article
- Disease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.Documenta ophthalmologica. Advances in ophthalmology · 2026Article
- COQ8 chaperones coenzyme Q lipid intermediates through ATP-driven structural gating.Science advances · 2026Article
- Missense variants in KATNA1 alter microtubule dynamics and underlie dominant macular dystrophy.Research square · 2026Article
- Article
- Prominin-1 and Retinal Degenerative Disorders: Expanding the Biology from Photoreceptors to the Retinal Pigment Epithelium.Biomolecules · 2026Review
- The Genetic Landscape of Inherited Retinal Diseases in the Israeli Population.Investigative ophthalmology & visual science · 2026Article
- Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.American journal of human genetics · 2026Article
- De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.Nature genetics · 2026Article
- Exome sequencing identifies a homozygous splice site variant inAnnals of medicine · 2025Article
- Article
- Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Clinical genetics · 2025Article
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
- One down but many more to go: the state of gene therapy for inherited retinal disease.Regenerative medicine · 2025Review
- AAV2.7m8 transduction of stage 2 human retinal organoids induces highly variable responses in innate and inflammatory gene expression and cytokine secretion.Experimental eye research · 2025Article
- Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.BMC medical genomics · 2025Observational
- Cone Rod Homeobox (Ophthalmic genetics · 2025Review
Corrections and comments
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as monogenic traits. However, with more than 280 disease genes identified so far, association of clinical phenotypes with genotypes can be very challenging, and molecular diagnosis is essential for genetic counseling and correct management of the disease. In addition, the prevalence and the assortment of IRD mutations are often population-specific. In this work, we examined 230 families from Portugal, with individuals suffering from a variety of IRD diagnostic classes (270 subjects in total). Overall, we identified 157 unique mutations (34 previously unreported) in 57 distinct genes, with a diagnostic rate of 76%. The IRD mutational landscape was, to some extent, different from those reported in other European populations, including Spanish cohorts. For instance, the
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.