Abstract Listings 2026

Purpose

Purpose:To present a pediatric ptosis case associated with congenital fibrosis of extraocular muscles (CFEOM), cranial nerve hypoplasia, and trigeminal nerve dysfunction, emphasizing diagnostic challenges in postoperative corneal pathology.

Methods

Case presentation:A male patient aged 1 year 7 months at initial assessment presented with bilateral congenital ptosis and compensatory head posture from early infancy. Ophthalmological examination revealed markedly limited extraocular motility, variable strabismus. At 1 year 8 months of age, bilateral frontalis sling surgery was performed, resulting in improved eyelid position and functional motor development.At 4.5 months postoperatively, corneal pathology was identified, including unilateral corneal ulceration (OD) and bilateral corneal opacities. Notably, both eyes were clinically quiet, without inflammatory signs, and complete eyelid closure was preserved bilaterally, excluding exposure keratopathy. The patient had a concurrent upper respiratory tract infection; therefore, viral keratitis was initially suspected due to reduced corneal sensitivity. However, serological testing for herpes simplex virus was negative.

Results

Imaging and genetic findings:Magnetic resonance imaging demonstrated bilateral poor differentiation of cranial nerves III, IV, and VI. In addition, hypoplasia of the right trigeminal nerve with incomplete formation of Meckel’s cave was observed. Orbital imaging revealed bilateral hypoplasia of the superior rectus muscles and narrowing of the medial rectus muscles. Optic nerve asymmetry was also noted (OD < OS). Genetic testing confirmed CFEOM (ORPHA:45358).

Conclusion

Conclusion:This case highlights that pediatric ptosis may be a manifestation of underlying neurogenic or genetic disorders. In such cases, early neuroimaging and genetic testing are essential for accurate diagnosis, appropriate surgical planning, and prevention of severe ocular surface complications.

Additional Authors

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