Retinitis pigmentosa ‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation

Key Clinical MessageThe identification of a novelRP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized care.AbstractOur study unveils a noteworthy association between retinitis pigmentosa-1 and a newly discovered homozygous mutation (c.5326delC; p.Asp1777Ilefs*32) within theRP1 gene. This highlights the crucial role of accurate variant identification in not only informing prognosis but also improving genetic consultations and influencing future diagnostic approaches for individuals affected by retinitis pigmentosa.
Source: Clinical Case Reports - Category: General Medicine Authors: Tags: CASE REPORT Source Type: research