Multimodal imaging and intravitreal faricimab for polypoidal choroidal vasculopathy associated with a choroidal nevus in genetically confirmed Usher syndrome type 2: a case report

Usher 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....

No actionable change for audiology practice; this report is ophthalmology-focused and relevant only to clinicians managing the ocular complications of Usher syndrome type 2.

It highlights the complex multi-system disease burden in Usher syndrome, reminding audiology teams of the need for coordinated ophthalmological co-management in this population.

1. 01Single case of Usher syndrome type 2 with concurrent polypoidal choroidal vasculopathy (abnormal retinal blood vessels).
2. 02Genetic confirmation of Usher syndrome type 2 was part of the diagnostic workup.
3. 03Multimodal retinal imaging was used to characterise the lesion alongside a choroidal nevus (benign eye freckle).
4. 04Intravitreal (intra-eye) faricimab injections were administered as treatment.
5. 05Findings are limited by the single-patient design; no generalisable conclusions can be drawn.

PMID

42271300

DOI

10.1186/s12886-026-05006-1.

Journal

BMC Ophthalmology

Publication type

case_report

Evidence level

4

Sample size

1

Population

Single adult patient with genetically confirmed Usher syndrome type 2 and polypoidal choroidal vasculopathy

Intervention

Intravitreal faricimab injections with multimodal retinal imaging