Expanding the phenotypic and genotypic spectrum of patients with < em > HGSNAT < /em > -related retinopathy

CONCLUSIONS: HGSNAT has high phenotypic heterogeneity. Data from our cohort showed that all patients who had at least one variant of c.1843 G>A (p.Ala615Thr) presented with the onset of ocular symptoms after the fourth decade of life. The two patients with onset of ocular symptoms before the fourth decade did not carry this variant. This may suggest that c.1843 G>A variant is associated with a later onset of retinopathy.PMID:37592806 | DOI:10.1080/13816810.2023.2245035

Source: Ophthalmic Genetics - August 18, 2023 Category: Opthalmology Authors: Mariana Matioli da Palma Molly Marra Austin D Igelman Cristy A Ku Amanda Burr Katherine Andersen Lesley A Everett Fernanda B O Porto Juliana Maria Ferraz Sallum Paul Yang Mark E Pennesi Source Type: research