Objective:
To identify associations between specific genetic mutations and the development of cystoid macular edema (CME) in patients with nonsyndromic retinitis pigmentosa (RP), highlighting the potential impact on treatment strategies.
Key Findings:
- 30.9% of patients developed CME during the disease course, with specific patient numbers for each gene.
- CME prevalence varied significantly by inheritance pattern: AD (51.4% of 175), AR (28.1% of 285), XL (7.5% of 120).
- CME prevalence varied widely by gene, with the highest in PRPF3 (75% of 12) and PRPF8 (72.7% of 11).
- Autosomal dominant RP associated with RHO, PRPF8, and PRPF3 mutations showed the strongest CME correlation.
- Genes encoding splicing factors collectively demonstrated a 57.7% CME prevalence (30/52 cases).
Interpretation:
The study suggests that spliceosome dysregulation may play a role in CME pathogenesis, emphasizing the importance of genetic factors in disease management and potential treatment strategies.
Limitations:
- Fluorescein angiography was not consistently performed, limiting information on leakage.
- Underdiagnosis may occur due to interscan variability and minimum cystic changes.
- Syndromic forms of RP were not included in the study, potentially affecting the generalizability of the findings.
Conclusion:
Further research is urgently needed to elucidate underlying mechanisms and develop new therapeutic targets for CME in RP patients.
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