Phenotypic expansion of retinal abnormalities in folliculin ( FLCN ) variant-related pathology (Birt–Hogg–Dubé syndrome)

Mild retinal disorganization across multiple imaging modalities expands the ocular phenotype of BHD and likely arises from defects in cellular adhesion mediated by FLCN. Larger cohorts of patients with BHD may be necessary to establish these ocular imaging abnormalities as part of the BHD phenotypic spectrum.