Genetic Landscape of Nonsyndromic Retinitis Pigmentosa in Portugal.

Peter M J Quinn, António Francisco Ambrósio, João Pedro Marques, Oluji Chukwunalu, Ana Luísa Carvalho, C Henrique Alves

Journal: Advances in experimental medicine and biology 2025;1468():81-86

PMID: 39930177

Abstract

Inherited retinal degenerations (IRDs) comprise a heterogeneous group of disorders that cause severe vision loss or even blindness. With an estimated prevalence of 1:4000, Retinitis Pigmentosa (RP) is the most prevalent IRD. RP is characterized by progressive centripetal degeneration of rods, followed by degeneration of cone photoreceptors. Clinically, RP presents with nyctalopia of variable age of onset and progressive narrowing of the peripheral visual field. Most patients eventually experience some degree of central vision loss, leading to legal blindness. We have evaluated the most common RP-causing genes in a Portuguese IRD registry (IRD-PT, www.retina.com.pt ).

Address: Univ Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal.; Univ Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Univ Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal.; Univ Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal.; Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; Medical Genetics Unit, Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal.; Univ Coimbra, Clinic of Medical Genetics, Faculty of Medicine, Coimbra, Portugal.; Department of Ophthalmology, Columbia University Irving Medical Center, New York, NY, USA.; FM Kirby Center for Molecular Ophthalmology, Department of Ophthalmology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Ophthalmology Unit, Unidade Local de Saúde de Coimbra (ULS de Coimbra), Coimbra, Portugal.; Univ Coimbra, University Clinic of Ophthalmology, Faculty of Medicine, Coimbra, Portugal.; Univ Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Coimbra, Portugal. [email protected].; Univ Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal. [email protected].; Association for Innovation and Biomedical Research on Light and Image (AIBILI), Coimbra, Portugal. [email protected].; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal. [email protected].

DOI: 10.1007/978-3-031-76550-6_14

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https://dx.doi.org/10.1007/978-3-031-76550-6_14

MeSH Terms: Retinitis Pigmentosa, Humans, Portugal, Genetic Predisposition to Disease, Mutation, Registries