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Background <p>Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is a rare congenital condition typically associated with mutations in the <i>FOXL2</i> gene. It is characterized by eyelid malformations and, in some cases, premature ovarian insufficiency. Although visual complications such as astigmatism and amblyopia are well recognized, an association between BPES-like features and keratoconus has not been previously reported.</p> Case presentation <p>We report a 41-year-old Saudi female presenting with progressive visual decline and congenital eyelid abnormalities. Clinical evaluation revealed features consistent with BPES, and corneal topography confirmed bilateral keratoconus. Genetic testing identified a homozygous pathogenic variant in the <i>COLEC10</i> gene, with no <i>FOXL2</i> mutations detected. A multidisciplinary management plan involving oculoplasty consult, corneal rehabilitation, and endocrine evaluation was implemented.</p> Conclusion <p>This case represents a novel association between a <i>COLEC10</i> mutation and a BPES-like phenotype with coexisting keratoconus. The findings suggest a potential genetic and mechanical basis for corneal ectasia in patients with congenital eyelid anomalies. The absence of <i>FOXL2</i> involvement emphasizes the importance of broad genetic testing in atypical presentations.</p> <p>Routine corneal imaging and comprehensive genetic analysis should be considered in patients with syndromic eyelid malformations. This case expands the clinical spectrum of COLEC10-related disorders and supports the need for further research into its role in ocular development and corneal biomechanics.</p>

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A rare case of Blepharophimosis-Ptosis-Epicanthus inversus syndrome (BPES) associated with keratoconus: a multidisciplinary approach to diagnosis and management

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  • 发表日期：

    2025年10月10日

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  • Abdulmajeed Al Khathami,
  • Ali Hendi Al Ghamdi

摘要

Background

Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) is a rare congenital condition typically associated with mutations in the FOXL2 gene. It is characterized by eyelid malformations and, in some cases, premature ovarian insufficiency. Although visual complications such as astigmatism and amblyopia are well recognized, an association between BPES-like features and keratoconus has not been previously reported.

Case presentation

We report a 41-year-old Saudi female presenting with progressive visual decline and congenital eyelid abnormalities. Clinical evaluation revealed features consistent with BPES, and corneal topography confirmed bilateral keratoconus. Genetic testing identified a homozygous pathogenic variant in the COLEC10 gene, with no FOXL2 mutations detected. A multidisciplinary management plan involving oculoplasty consult, corneal rehabilitation, and endocrine evaluation was implemented.

Conclusion

This case represents a novel association between a COLEC10 mutation and a BPES-like phenotype with coexisting keratoconus. The findings suggest a potential genetic and mechanical basis for corneal ectasia in patients with congenital eyelid anomalies. The absence of FOXL2 involvement emphasizes the importance of broad genetic testing in atypical presentations.

Routine corneal imaging and comprehensive genetic analysis should be considered in patients with syndromic eyelid malformations. This case expands the clinical spectrum of COLEC10-related disorders and supports the need for further research into its role in ocular development and corneal biomechanics.