Expanding the Genetic Spectrum in <i>IMPG1</i> and <i>IMPG2</i> Retinopathy.

ABSTRACT: Background: Pathogenic variants in interphotoreceptor matrix proteoglycan 1 (IMPG1) have been associated with autosomal dominant and recessive retinitis pigmentosa (RP) and autosomal dominant adult vitelliform macular dystrophy (AVMD). Monoallelic pathogenic variants in IMPG2 have been linked to maculopathy and biallelic variants to RP with early onset macular atrophy. Herein we characterise the phenotypic and genotypic features of patients with IMPG1/IMPG2 retinopathy and report novel variants. Methods: Patients with IMPG1 and IMPG2 variants and compatible phenotypes were retrospectively identified. Clinical data were obtained from reviewing the medical records. Phenotypic data included visual acuity, imaging included ultra-widefield

SUBMITTER: Al-Khuzaei S 

PROVIDER: S-EPMC12732860 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature