A Rare Case Of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (Bpes) Associated With Keratoconus

Published 2025 - 43rd Congress of the ESCRS

Reference: PO122 | Type: Case Report | DOI: 10.82333/066h-e096

Authors: Abdulmajeed Al Khathami, Mbbs ¹ , Ali Hendi ²

¹Ophthalmology,King FahadHospital, Al Baha Health Cluster,Al Baha,Saudi Arabia, ²Unit of Ophthalmology, Department of Surgery,Al Baha University,Al Baha,Saudi Arabia

Purpose

This case report presents a documented instance of BPES associated with keratoconus, emphasizing the critical importance of a multidisciplinary approach. By integrating genetic counseling, advanced corneal imaging, and tailored surgical interventions, we aim to optimize outcomes for affected individuals. This report underscores the need for further research into the interplay between eyelid malformations and corneal ectasia, advancing the understanding of this rare but clinically significant association. While BPES is well-documented for its ocular and systemic features, the association of BPES with keratoconus has not been previously reported.

Setting

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is a rare autosomal dominant genetic disorder caused by mutations in the FOXL2 gene, characterized by eyelid malformations and, in some cases, premature ovarian insufficiency. While ocular complications such as astigmatism and amblyopia are common, the association of BPES with keratoconus has not been previously reported.

Report of case

A 41-year-old Saudi female with a medical history of hypertension and asthma presented to the ophthalmology clinic with progressive visual decline and congenital eyelid abnormalities. The patient had no history of ocular trauma, allergies, or other significant systemic conditions. She is a mother of two children.

Corneal topography confirmed irregularities consistent with keratoconus, characterized by steepening, posterior corneal elevation, and thinning (Figures 2 and 3). The presence of Vogt striae degeneration in both eyes further corroborated the diagnosis, suggesting mechanical stress on the cornea.

Given the clinical presentation of BPES, genetic testing was confirm a mutation in the FOXL2 gene.

Conclusion/Take home message

This case report highlights a novel association between Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and keratoconus, emphasizing the importance of multidisciplinary management and early corneal screening in BPES patients. The co-occurrence of these conditions underscores the potential interplay between genetic mutations and mechanical corneal stress. Early detection through routine imaging, combined with tailored surgical and medical interventions, can optimize visual and systemic outcomes. Further research into the genetic and biomechanical links between BPES and keratoconus is essential to improve understanding and enhance management strategies for such complex cases.