GLOBAL RETINAL DYSTROPHIES: CLINICAL EXOME PANEL (Sec. & CNVs) – 483 genes

This clinical exome panel is designed for the genetic study of patients with suspected inherited retinal dystrophies, a heterogeneous group of diseases affecting the photoreceptors and retinal pigment epithelium, causing progressive vision loss. These pathologies can manifest as night blindness, photophobia, scotomas, visual field defects, or loss of central visual acuity, and their molecular diagnosis is essential for establishing a visual prognosis, guiding follow-up, and evaluating emerging therapeutic options. This panel allows the detection of point variants and copy number changes (CNVs) in a wide range of genes involved in different types of retinal dystrophies, such as retinitis pigmentosa, choroideremia, Leber congenital amaurosis, Stargardt disease, cone-rod dystrophy, macular dystrophy, X-linked retinoschisis, achromatopsia, and Bardet-Biedl syndrome, among others. It includes key genes such as ABCA4, CHM, CRB1, RPE65, CNGB1, CNGA1, CRX, RPGR, RP2, GUCY2D, PDE6A, PDE6B, PRPH2, BEST1, PROM1, USH2A, CEP290, BBS1, BBS10, BBS12, NMNAT1, AIPL1, TULP1, CRB1, CRX, OPA1, OPA3, RS1, GUCY2F, CABP4, CACNA1F, and others. Genetic analysis using this panel allows for confirmation of clinical diagnoses, differentiation between various forms of retinal dystrophies, guidance for family genetic counseling, identification of carriers, and evaluation of eligibility for clinical trials and gene therapies currently under development. For the complete panel of genes studied, please contact Genótica.