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September 17, 2026European Journal of Human GeneticsOpen Access

Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series

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Authors

MKMarianthi KaraliSKSusanne KohlFTFrancesco Testa

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Karali et al. (2026) studied this question.

synapsesocial.com/papers/6aabb8245f706d05830e7c2ahttps://doi.org/10.1038/s41431-026-02232-5
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical manifestations of dual‐gene variants in retinitis pigmentosa2026
  2. 2RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes2024 · 9 citations
  3. 3A Rare RHO Variant and Its Phenotypic Spectrum in a Portuguese Family With Retinitis Pigmentosa: a Case Series2026
  4. 4Do variants in the CDH23 gene cause non-syndromic retinitis pigmentosa? Dual validation using whole exome sequencing and a zebrafish model2025
  5. 5A new genotype of the <i>IDH3A</i> gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood2025