ArticleBMC ophthalmology2026
Multimodal imaging and intravitreal faricimab for polypoidal choroidal vasculopathy associated with a choroidal nevus in genetically confirmed Usher syndrome type 2: a case report.
Article in BMC ophthalmology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundUsher syndrome is an autosomal recessive disorder characterized by retinitis pigmentosa (RP), sensorineural hearing loss, and vestibular dysfunction. Polypoidal choroidal vasculopathy (PCV) is characterized by branching neovascular networks and polypoidal lesions. While typically classified within the pachychoroid spectrum, PCV can also manifest in eyes without choroidal thickening. Conversely, RP is usually associated with choroidal thinning, which may lead to underdiagnosis of PCV. To the best of our knowledge, PCV has not previously been reported in patients with Usher syndrome. Here, we present the first genetically confirmed case of Usher syndrome type 2 complicated by PCV that was successfully managed with intravitreal faricimab. CASE PRESENTATION: A 63-year-old man presented with night blindness. The diagnosis of Usher syndrome type 2 was confirmed based on bilateral RP features, moderate sensorineural hearing loss, and two pathogenic USH2A variants. Six years after the initial diagnosis, the patient developed visual disturbance in the left eye, with the best-corrected visual acuity (BCVA) declining to 20/80. Multimodal imaging, including spectral-domain optical coherence tomography, fluorescein angiography, indocyanine green angiography, and swept-source optical coherence tomography angiography, confirmed the diagnosis of PCV. An amelanotic choroidal nevus was also identified on SD-OCT. After five intravitreal faricimab injections, the BCVA improved to 20/30, with a 75% reduction in pigment epithelial detachment height and complete subretinal fluid resolution without adverse effects.
conclusionsTo our knowledge, this is the first reported case of PCV associated with a choroidal nevus in a patient with genetically confirmed Usher syndrome type 2. PCV should not be excluded in patients with RP despite characteristic choroidal thinning. Intravitreal faricimab was effective and well-tolerated, suggesting its therapeutic potential in such cases.
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