2Ondokuz Mayıs University, Pathology, Samsun, Türkiye DOI : 10.37845/ret.vit.2025.34.45 Diffuse infiltrating retinoblastoma (DIRB) is a rare, aggressive retinoblastoma subtype that mimics uveitis and complicates diagnosis especially in adults often causing misdiagnosis, unnecessary therapy, and delay in definitive care.
We report a 19-year-old male presenting with decreased vision and photopsia in the right eye. He was initially diagnosed with pars planitis and received topical/subtenon steroids, followed by vitrectomy with cataract extraction; later, trabeculectomy was required for secondary glaucoma. Progressive visual decline and a suspicious anterior-segment lesion prompted enucleation. Histopathology confirmed DIRB with extensive anterior-segment infiltration and no extraocular extension.
This case underscores the need to consider retinoblastoma in refractory intraocular inflammation in young adults and to escalate evaluation with multimodal imaging and, when available, liquid biopsy (aqueous/vitreous). Multidisciplinary care is essential.
Keywords : Diffuse infiltrating retinoblastoma, pseudo-uveitis, secondary glaucoma, adult-onset retinoblastoma, vitreous sampling