Study Finds CME Prevalence in RP is Gene-Dependent

Development of cystoid macular edema was most strongly associated with mutations in genes that encode splicing factors.

By: Sarah Fackler, managing editor, Optometric Management

Retinal Physician November 18, 2025 Vol 22, Issue November/December 2025

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Cystoid macular edema (CME) prevalence in retinitis pigmentosa (RP) is significantly associated with specific genetic mutations.
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In a study of 580 RP patients, 30.9% developed CME, with higher rates in autosomal dominant cases compared to autosomal recessive and X-linked forms.
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Genes encoding splicing factors showed a 57.7% CME prevalence, suggesting spliceosome dysregulation may contribute to CME pathogenesis.
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Variants in the RHO gene were frequently linked to CME, while mutations in RP2 and RPGR were rarely associated with the condition.
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The study highlights the need for spectral-domain optical coherence tomography in RP management and further research on CME mechanisms.

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