Ophthalmic genetics
Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
Ari H August, Carol L Shields, Jasmine H Francis, Fred K Chen, Jose S Pulido
Published: 202510.1080/13816810.2025.2590163
Abstract
PURPOSE: Birt-Hogg-Dubé (BHD) syndrome 1 is caused by pathogenic folliculin (FLCN) variants, resulting in classic hair follicle tumors, pulmonary cysts, pneumothorax, and renal cancer. FLCN is expressed in retinal tissues, and previous reports of BHD…
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