Overview
Ptosis and vocal cord paralysis syndrome, often associated with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), involves craniofacial anomalies affecting eyelid position and potentially affecting vocal cord function. 12Diagnosis
Clinical Presentation: Characteristic features include blepharophimosis, ptosis, and epicanthus inversus.
Visual Assessment: Measure Snellen visual acuity, cycloplegic refraction, and ocular movements.
Strabismus Evaluation: Assess for significant strabismus, which correlates with amblyopia risk.
Molecular Cytogenetics: Consider genetic testing, particularly for translocations affecting chromosomal regions 3q23 and 21q22.1, in atypical cases. 2Management
Refractive Correction: Spectacle correction for refractive errors identified.
Occlusion Therapy: Implement for patients with amblyopia to improve visual acuity.
Strabismus Surgery: Consider surgical intervention for significant strabismus impacting visual development.
Oculoplastic Surgery: Evaluate for surgical correction of eyelid abnormalities if necessary.
Monitoring: Regular follow-up to assess visual development and adjust treatments as needed. 1Special Populations
Pediatrics: Early intervention crucial for visual development, including amblyopia management and strabismus correction. 1
Comorbidities: BPES type I may involve ovarian dysfunction; consider reproductive health counseling. 2Key Recommendations
Regular visual assessments and early intervention for amblyopia and strabismus are essential in pediatric patients to optimize visual outcomes. (Evidence: Moderate 1)
Genetic testing, particularly for chromosomal translocations, should be considered in patients with atypical presentations of BPES. (Evidence: Weak 2)
Comprehensive management should include refractive correction, occlusion therapy, and surgical interventions as needed to address both ocular and potential systemic manifestations. (Evidence: Expert opinion)References
1 Choi KH, Kyung S, Oh SY. The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome. Journal of pediatric ophthalmology and strabismus 2006. link
2 Praphanphoj V, Goodman BK, Thomas GH, Niel KM, Toomes C, Dixon MJ et al.. Molecular cytogenetic evaluation in a patient with a translocation (3;21) associated with blepharophimosis, ptosis, epicanthus inversus syndrome (BPES). Genomics 2000. link