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

Le résumé fourni par la source

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 described flecked chorioretinopathy, choroidal melanoma, chorioretinal atrophy, and retinal pigment epithelium microdetachments. FLCN has been implicated in numerous cellular processes of metabolism, autophagy, differentiation, ciliary function, and cellular adhesion. METHODS AND FINDINGS: We performed a retrospective chart review of clinical information and imaging of patients with BHD from three centers and describe three patients who were found to have diffuse, abnormal, pinpoint foci observed across multiple retinal imaging modalities in both eyes (n = 6 eyes). These lesions were hypo- and hyperautofluorescent on fundus autofluorescence (FAF) and hypo- and hyperfluorescent on fluorescein angiography. Optical coherence tomography (OCT) revealed loss of inner retinal laminations, and numerous pinpoint hyperreflective lesions throughout the inner, middle, and outer retina which were seen in foveal, perifoveal, and peripheral retinal sections. CONCLUSIONS: 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.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.