Phenotypic expansion of retinal abnormalities in <i>folliculin</i> ( <i>FLCN</i> ) 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.

Authors

Jasmine H. Francis (ORCID: https://orcid.org/0000-0002-7637-3108)
Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
José S. Pulido (ORCID: https://orcid.org/0000-0003-2009-3163)
Carol L. Shields
Ari H. August

Institutions

Lions Eye Institute (AU)
Memorial Sloan Kettering Cancer Center (US)
Thomas Jefferson University (US)
The University of Western Australia (AU)
Cornell University (US)
The Royal Victorian Eye & Ear Hospital (AU)
Minnesota Lions Eye Bank (US)
Wills Eye Hospital (US)

Publication Details

Journal: Ophthalmic Genetics
Published: 2025-11-25
DOI: https://doi.org/10.1080/13816810.2025.2590163
Primary Topic: Renal cell carcinoma treatment
Type: article
Field-Weighted Citation Impact: 0.00

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article

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

Jasmine H. Francis, Fred K. Chen, José S. Pulido, Carol L. Shields et al.

Nov 25, 2025

Ophthalmic Genetics

Renal cell carcinoma treatment

article

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

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

November 25, 2025article en

Abstract

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.

Ophthalmic GeneticsVol. 47(2)

Lions Eye Institute (AU), Memorial Sloan Kettering Cancer Center (US), Thomas Jefferson University (US), The University of Western Australia (AU), Cornell University (US), The Royal Victorian Eye & Ear Hospital (AU), Minnesota Lions Eye Bank (US), Wills Eye Hospital (US)

Openalex Percentile: Top 46%

Renal cell carcinoma treatment

DOI Source OpenAlex

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Phenotypic expansion of retinal abnormalities in <i>folliculin</i> ( <i>FLCN</i> ) variant-related pathology (Birt–Hogg–Dubé syndrome) — Jasmine H. Francis, Fred K. Chen, et al. · Ophthalmic Genetics (2025) | TGRS Research Map | TGRS