Bilateral Choroidal Neovascular Membranes in a Patient With a C1QTNF5 Mutation Managed With Long-Term Anti-VEGF...

Choroidal neovascular membranes (CNVM) are abnormal vascular complexes that can cause serious visual morbidity if untreated. They can be induced by the C1QTNF5 mutation, which disrupts retinal pigment epithelium (RPE) adhesion and leads to progressive sub-RPE deposit accumulation. Due to its overlapping clinical presentation with age-related macular degeneration (AMD), C1QTNF5-associated CNVM is often misdiagnosed. Early recognition of atypical CNVM clinical presentations is essential to prompt genetic testing and initiate personalized antivascular endothelial growth factor (anti-VEGF) therapy. We report a 57-year-old male with a history of pontine stroke and strabismus surgery who presented with bilateral submacular hemorrhages and visual distortion. Given the atypical bilateral presentation and absence of drusen, genetic testing was performed. A pathogenic C1QTNF5 mutation with a p. Asn22Lys variant was identified. Treatment was initiated with intravitreal bevacizumab (IVA) injection and switched to aflibercept (IVE). After 2 years of tailored injection intervals based on optical coherence tomography (OCT) and visual acuity, the patient achieved visual acuity of 20/25 in both eyes with complete or near-complete resolution of subretinal fluid. A pro re nata (PRN) protocol was then initiated, and vision remained stable at the 4-year follow-up. This case highlights the importance of considering inherited retinal disease in atypical CNVM presentations. Early diagnosis, genetic testing, and individualized, imaging-driven anti-VEGF therapy can lead to long-term stability and favorable visual outcomes in patients with C1QTNF5-associated CNVM. Although causality cannot be established from a single case, concurrent glaucoma findings support the need for comprehensive ocular surveillance in patients with C1QTNF5 mutations.