Genetic profile of syndromic retinitis pigmentosa in Portugal.
Telmo CortinhalCristina SantosSara Vaz-PereiraAna Ambrósio MartaLilianne DuarteVítor MirandaJosé F CostaAna-Berta SousaVirginie G PeterKarolina KaminskaCarlo RivoltaAna Luísa CarvalhoJorge SaraivaCélia Azevedo SoaresRufino SilvaJoaquim MurtaLuísa Coutinho SantosJoão Pedro MarquesPublished in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2024)
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.