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September 27, 2025Ophthalmic Genetics

A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood

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Authors

NRNuria Rosell-SaizHospital General Universitario De ValenciaASAntonio Sierra‐RiveraHospital General Universitario De ValenciaJTJordi Tortosa-CarreresHospital Universitari i Politècnic La Fe

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Overview

Case report highlights severe dyschromatopsia in a woman with retinitis pigmentosa, suggesting genetic links.

Key Points

  • The new idh3a genotype causes childhood-onset retinitis pigmentosa and significant dyschromatopsia.
  • Affected individuals show severe color vision disorder and early-onset cataracts, impacting daily life.
  • The phenotype appears autosomal recessive, evident in siblings but not parents, indicating a rare inheritance pattern.
  • This case adds to the understanding of retinitis pigmentosa's clinical variability and genetic underpinnings.

Cite This Study

Rosell-Saiz et al. (2025) studied this question.

synapsesocial.com/papers/68d7be62eebfec0fc5237a79https://doi.org/10.1080/13816810.2025.2563909
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Also Consider

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

  1. 1Challenges in Managing Retinitis Pigmentosa: A Case Report and Review of Current Literature2025 · 1 citations
  2. 2Retinitis Pigmentosa in a Patient With a Homozygous Mutation in the RBP3 Gene: A Case Report2025
  3. 3Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series2026
  4. 4A Rare RHO Variant and Its Phenotypic Spectrum in a Portuguese Family With Retinitis Pigmentosa: a Case Series2026
  5. 5Genetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients2025 · 1 citations