Bilateral Sequential Vision Loss from Multiple Progressive Fusiform Aneurysms With COL1A1 Genetic Variant With Vascular Ehlers-Danlos Syndrome Phenotype

Vascular Ehlers-Danlos syndrome, characterized by vascular wall dysfunction and intestinal perforation, is established with a heterozygous pathogenic variant in COL3A1 in molecular genetic testing or type III collagen chain synthesis abnormalities on biochemical analysis.1 Rarely, the vascular phenotype can be associated with COL1A1 mutations, typically with substitutions of arginine by cysteine. We present a case of sequential, bilateral compressive optic neuropathy by expanding internal carotid artery (ICA) aneurysms in a patient with a COL1A1 variant.

87 Bilateral Sequential Vision Loss From Multiple Progressive Fusiform Aneurysms With COL1A1 Genetic Variant With Vascular Ehlers-Danlos Syndrome Phenotype Johanna Yun 1, Erin Lanzo 1, Marc Dinkin 2, John Paddock 2, Cristiano Oliveira 1 Weill Cornell Medicine, Department of Ophthalmology, 2 Weill Cornell Medicine, Department of Ophthalmology and Neurology 1 Introduction: Vascular Ehlers-Danlos syndrome, characterized by vascular wall dysfunction and intestinal perforation, is established with a heterozygous pathogenic variant in COL3A1 in molecular genetic testing or type III collagen chain synthesis abnormalities on biochemical analysis.1 Rarely, the vascular phenotype can be associated with COL1A1 mutations, typically with substitutions of arginine by cysteine. We present a case of sequential, bilateral compressive optic neuropathy by expanding internal carotid artery (ICA) aneurysms in a patient with a COL1A1 variant. Description of Cases: A 50-year-old female with history of recurrent sigmoid diverticulitis with colonic perforation, who presented for neuroophthalmic consultation due to progressive visual decline in the right eye. On initial examination, she had hand-motion vision in the right eye, and normal visual acuity (20/20) and normal Humphrey visual field testing (HVF) in the left eye. MRI Orbits showed a large right paraclinoid ICA aneurysm. CTA Head/Neck showed multifocal fusiform aneurysmal dilatation of the bilateral ICAs, with the right ICA aneurysm measuring 10.4 mm, and multiple aneurysms involving left MCA bifurcation, and vertebrobasilar junction. She underwent pipeline stent of the right aneurysm, which had enlarged to 15.2 mm. In subsequent examination, the visual acuity remained poor in the right eye (count-fingers), normal visual acuity in the left eye (20/20) but with new superior arcuate visual field defect. Contrast-enhanced MRI Orbits and MRA Head showed interval dilation of the left ICA aneurysm with mass effect on the left prechiasmatic optic nerve. She underwent pipeline diversion of the aneurysm. Given multiple fusiform and expanding aneurysms, molecular genetic testing was performed, demonstrating COL1A1 (c.2573C>T; p.Ala858Val). Conclusions, including unique features of the case: We present an unique case with bilateral sequential compressive optic neuropathy from bilateral enlarging fusiform ICA aneurysms in a patient later found to have COL1A1 genetic variant with vascular Ehlers-Danlos Syndrome phenotype. Progressive fusiform aneurysm, particularly when multiple, should raise concern for genetic connective tissue disorders. References: 1. Adam MP, Mirzaa GM, Pagon RA, et al. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116/ Keywords: Interventional neuroradiology, Vascular disorders, Optic neuropathy, Genetic disease, Neuroimaging Financial Disclosures: The authors had no disclosures. Grant Support: None. Contact Information: None provided. 2024 Annual Meeting Syllabus | 143