20.500.12556/DiRROS-31914 Atypical COQ2-related retinopathy in identical twins with nephropathy mimicking intermediate uveitis Purpose: To describe an atypical presentation of COQ2-related retinopathy in identical twins withnephropathy, mimicking intermediate uveitis with cystoid macular oedema (CMO).Methods: Retrospective case report.Results: A 33-year-old man presented with bilateral vision worsening and suspected intermediate uveitis.Examination revealed vitreous cells, CMO, retinal microangiopathy, and severely abnormal electrooculo-graphy (EOG) with only borderline full-field electroretinography (ERG) changes. CMO worsened withtopical corticosteroids but improved bilaterally after a single unilateral intravitreal bevacizumab injection,suggesting a systemic therapeutic effect. His identical twin exhibited very similar retinal and systemicfindings. Whole-exome sequencing identified a homozygous likely pathogenic COQ2 variant (c.683A >G), confirming primary coenzyme Q10 (CoQ10) deficiency type 1. Both twins also had nephropathyconsistent with focal segmental glomerulosclerosis (FSGS) but no neurological involvement.Conclusions: This report expands the phenotypic spectrum of COQ2-related retinopathy, characterizedby retinal microangiopathy, CMO, and primary retinal pigment epithelium (RPE) dysfunction with pre-served rod function, in contrast to the typical retinitis pigmentosa–like phenotype. Recognition of thispresentation is critical, as early CoQ10 supplementation may stabilize disease progression and preventsystemic complications. Genetic testing should be considered in young patients with CMO resemblingintermediate uveitis, particularly when associated with nephropathy. COQ2-related retinopathy uveitis rare disease true false true Angleški jezik Ni določen Neznano 2026-08-18 09:41:13 2026-08-18 09:41:14 2026-08-19 03:46:20 0000-00-00 00:00:00 2026 0 0 Nasl. z nasl. zaslona; Opis vira z dne 29. 5. 2026; str. 1200-1205 issue 5 Vol. 34 2026 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 617.7 1744-5078 10.1080/09273948.2026.2679855 279820803 RAZ_Gavric_Ana_Ursula_2026.pdf RAZ_Gavric_Ana_Ursula_2026.pdf 1 3B6525301B09532F423A6CA44D442154 27ad51e04fc7bc153bc2e71cf9e44594930e75550e14f454d1ae22747bd2b365 59a84f7e-9ad8-11f1-af5a-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=49649 https://www.tandfonline.com/doi/full/10.1080/09273948.2026.2679855 1 31716b56-9ad8-11f1-af5a-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=49648 Univerzitetni klinični center Ljubljana 0 0 0