Expanding the phenotypic and genotypic spectrum of patients with HGSNAT -related retinopathy.
Mariana Matioli da PalmaMolly MarraAustin D IgelmanCristy A KuAmanda BurrKatherine AndersenLesley A EverettFernanda Belga Ottoni PortoJuliana Maria Ferraz SallumPaul YangMark E PennesiPublished in: Ophthalmic genetics (2023)
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.