The crossroads of ocular inflammation and inherited retinal degenerations: a report of two cases
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Abstract
We describe the clinical and molecular diagnostic overlap between posterior uveitis and inherited retinal diseases (IRDs) in 2 cases of PRPF31 retinitis pigmentosa (RP) presenting with features of posterior uveitis. Both patients with PRPF31 retinopathy had typical inflammatory clinical features of anterior chamber (AC) cells, vitritis, retinal vasculitis, and cystoid macular edema (CME), which was resistant to carbonic anhydrase inhibitors, systemic steroids, and antimetabolites but eventually responded to intraocular fluocinolone implant. This improvement with local corticosteroids in these RP cases suggests an inflammatory component on top of retinal pigment epithelial pump dysfunction. Aggressive systemic anti-inflammatory/immunosuppressive treatment may cause ocular (eg, cataract, glaucoma) and/or systemic (eg, teratogenic effects, infection risk) morbidity; benefits and risks should be discussed with patients. Bilateral symmetrical reduced vision, nyctalopia, and pigmentary retinopathy in young patients suggests IRD, but significant inflammatory signs may be present and should be addressed. Genetic testing may be helpful in clarifying mixed IRD/uveitis phenotypes, although results must be interpreted cautiously.
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