Ophthalmic genetics · 2026
Idiopathic retinal vasculitis with neovascularisation in Cornelia de Lange syndrome associated with a novel HDAC8 variant.
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Cozzupoli Grazia Maria, Beretta Federico, Sacconi Riccardo, Fedeli Romolo, Querques Giuseppe
Аннотация
PURPOSE: To describe a case of unilateral idiopathic retinal vasculitis with neovascularisation in a patient with Cornelia de Lange syndrome (CdLS) and to expand the known ophthalmic phenotype of this condition.
METHODS: Observational case report of an 18-year-old girl with clinically diagnosed CdLS associated with a novel HDAC8 variant. Multimodal retinal imaging, including fundus photography, fluorescein angiography, and optical coherence tomography, was performed. Infectious and autoimmune causes were systematically investigated and excluded.
RESULTS: The patient developed unilateral retinal vasculitis with macular edema and neovascularisation. Imaging confirmed vascular leakage, retinal ischemia, and macular involvement in the affected eye. Treatment with intravitreal aflibercept and panretinal photocoagulation led to regression of neovascularisation; however, recurrent macular edema was observed during follow-up.
CONCLUSIONS: This case represents the first report of inflammatory retinal disease in CdLS. It broadens the spectrum of ocular manifestations associated with the disorder and emphasizes the importance of early and thorough retinal assessment in these patients.
METHODS: Observational case report of an 18-year-old girl with clinically diagnosed CdLS associated with a novel HDAC8 variant. Multimodal retinal imaging, including fundus photography, fluorescein angiography, and optical coherence tomography, was performed. Infectious and autoimmune causes were systematically investigated and excluded.
RESULTS: The patient developed unilateral retinal vasculitis with macular edema and neovascularisation. Imaging confirmed vascular leakage, retinal ischemia, and macular involvement in the affected eye. Treatment with intravitreal aflibercept and panretinal photocoagulation led to regression of neovascularisation; however, recurrent macular edema was observed during follow-up.
CONCLUSIONS: This case represents the first report of inflammatory retinal disease in CdLS. It broadens the spectrum of ocular manifestations associated with the disorder and emphasizes the importance of early and thorough retinal assessment in these patients.