Pei-Yan Shi

Novel INPP5E compound heterozygous mutations cause severe early-onset isolated retinal degeneration: a case report

Pathogenic variants in the INPP5E gene are associated with a broad phenotypic spectrum, from syndromic ciliopathies like Joubert syndrome to non-syndromic inherited retinal degenerations (IRD). Isolated retinal phenotype without systemic involvement remains rarely characterized. We describe a genetically conf...