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Author

Ting Wang

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Open access Oct 2026

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...

Pei-Yan Shi, Ting Wang, Jin-Ling Ge · 0 citations

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