The following is a summary of “Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family,” published in the November 2023 issue of Opthalmology by Lin et al. 

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is an inherited genetic disorder that affects the development of the eyelids, resulting in a spectrum of ocular malformations. Researchers performed a retrospective study to identify the disease-causing gene in a BPES family with unusual features of anisometropia, unilateral pathologic myopia, and congenital cataracts. 

BPES patients received a thorough ocular examination and whole-exome sequencing (WES) to identify disease-causing genetic variants. Candidate variants were selected through a step-wise filtering process, and their pathogenicity was assessed using bioinformatic methods. Co-segregation analysis and Sanger sequencing were performed to confirm the candidate variant. 

The result demonstrated that variant c.672_701dup in FOXL2 was determined to be the disease-causing variant in this rare BPES family. Taking into account clinical symptoms, both affected individuals were diagnosed with Type II BPES. 

The study found that the novel FOXL2 variant c.672_701dup expands the clinical spectrum of BPES to include anisometropia, unilateral pathologic myopia, and congenital cataracts.

Source: bmcophthalmol.biomedcentral.com/articles/10.1186/s12886-023-03189-5