2 documents found, page 1 of 1
Genetic profile of syndromic retinitis pigmentosa in Portugal
Cortinhal, Telmo; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, José; Sousa, Ana Berta; Peter, Virginie G.Funding Information: Open access funding provided by FCT|FCCN (b-on). Part of this research was supported by EJPRD19-234 (Solve-RET) (to CR) regarding patients from Instituto Gama Pinto (IOGP). No other funding was received. Publisher Copyright: © 2024, The Author(s).; Purpose: Retinitis pigmentosa (RP) comprises a genetically and clinically heterogeneous group of inherited retinal degenerations, where 20–30% o...
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Marta, Ana; Marques, João Pedro; Santos, Cristina; Coutinho-Santos, Luísa; Vaz-Pereira, Sara; Costa, José; Arede, Pedro; Félix, Raquel; Geada, SaraBackground: 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 a...