Background: Pathogenic variants in the gene are linked to a spectrum of ciliopathies, which can present with ophthalmic symptoms. In this study, we describe the multimodal imaging findings of a patient with an adult-onset Stargardt-like phenotype associated with biallelic variants.
Methods: The patient underwent a comprehensive ophthalmologic evaluation, including slit-lamp examination, optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT-angiography (OCTA).