Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Ophthalmic genetics - 1 Apr 2026

August Ari H, Shields Carol L, Francis Jasmine H, Chen Fred K, Pulido Jose S

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Birt-Hogg-Dube Syndrome
Share to Fluorescein Angiography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Share to Proto-Oncogene Proteins

Share to Retina

Share to Retinal Diseases

Share to Tomography, Optical Coherence

Share to Tumor Suppressor Proteins

Source

Identifiers

PMID: 41290560
DOI: 10.1080/13816810.2025.2590163

Genes

FLCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).PMID 41290560Read ↗

Clinical features, genetics and potential therapeutic approaches for Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

New Developments in the Pathogenesis of Pulmonary Cysts in Birt-Hogg-Dubé Syndrome.Semantic proximity Read ↗

Familial Birt-Hogg-Dubé Syndrome diagnosed with the rare FLCN exon 6 mutation: a case series of three related patientsSemantic proximity Read ↗

Birt-Hogg-Dubé syndrome: from gene discovery to molecularly targeted therapies.Semantic proximity Read ↗

The folliculin mutation database: an online database of mutations associated with Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Pulmonary cysts of Birt-Hogg-Dubé syndrome: a clinicopathologic and immunohistochemical study of 9 families.Semantic proximity Read ↗

Birt-Hogg-Dubé Syndrome.Semantic proximity Read ↗

Birt–Hogg–Dubé syndrome is a novel ciliopathySemantic proximity Read ↗

Choroidal melanoma and lid fibrofoliculomas in Birt-Hogg-Dubé syndrome.Semantic proximity Read ↗

Focus on the pulmonary involvement and genetic patterns in Birt-Hogg-Dubè syndrome: Literature review.Semantic proximity Read ↗

A special case study of Birt–Hogg–Dubé syndromeSemantic proximity Read ↗

Evaluation of folliculin detection by immunohistochemistry in Birt-Hogg-Dubé associated kidney tumorsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.