Inherited Retinal Disease-Associated Uveitis

李岳章 Yueh-Chang LeeTaiwan Speaker Inherited Retinal Disease-Associated UveitisInherited retinal diseases (IRDs) are traditionally regarded as non-inflammatory disorders characterized by progressive photoreceptor degeneration. However, uveitis may occasionally occur in patients with IRDs, creating diagnostic challenges and influencing therapeutic decisions. This presentation highlights two clinically important scenarios illustrating this overlap: retinal pigmentary changes mimicking retinitis pigmentosa (RP) as a manifestation of advanced uveitis, and recurrent macular edema in advanced RP that responds to intravitreal anti-VEGF therapy. Chronic or recurrent posterior uveitis can produce pigmentary alterations resembling the bone-spicule pattern seen in RP, potentially leading to misdiagnosis of a primary inherited dystrophy. Correctly identifying inflammation-induced pigmentary change is essential, as addressing the underlying uveitis may alter disease course. Conversely, in patients with genetically confirmed RP, macular edema—often persistent or recurrent—may show meaningful improvement after anti-VEGF treatment, suggesting that secondary vascular leakage and inflammatory activity contribute to visual decline in these eyes. Emerging genetic and mechanistic reports suggest that inflammation may play a role in selected IRDs. Variants in genes such as CRB1, ALPK1, CAPN5, and VCAN1 have been associated with impaired retinal barrier function, activation of proinflammatory pathways, altered immune regulation, or abnormal vitreous architecture, each of which may increase susceptibility to inflammatory manifestations. While these findings are not universal across all IRDs, they provide potential explanations for cases in which uveitis precedes, accompanies, or complicates retinal degeneration. Recognizing these overlapping presentations is important for accurate interpretation of retinal findings, appropriate use of imaging and genetic testing, and individualized therapeutic planning, particularly in patients presenting with atypical features or unexplained inflammation.