The factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome

To investigate the factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome.

The study population comprised 20 patients with blepharophimosis-ptosis-epicanthus inversus syndrome who were referred for an oculoplastic opinion. The ocular examination included measurement of Snellen visual acuity, cycloplegic refraction, ocular movements and alignment, and the presence of amblyopia. Patients were treated with spectacle correction, occlusion therapy, strabismus surgery, and oculoplastic surgery if necessary. Minimum follow-up was 2 years.

Nine (45%) patients had amblyopia; 5 (25%) of these patients had unilateral amblyopia and 4 (20%) had bilateral amblyopia. Six (67%) patients with amblyopia had a significant coexisting strabismus. A significant strabismus was present in 11 (55%) patients; 6 (55%) of these patients had unilateral or bilateral amblyopia. Patients with strabismus were more likely to have amblyopia than those without. A total of 14 (70%) patients had refractive error; 6 (43%) of these patients had amblyopia.

Patients with blepharophimosis-ptosis-epicanthus inversus syndrome had a high rate of amblyopia, especially bilateral amblyopia. Patients with strabismus were more likely to have amblyopia than those without. Patients also had a high incidence of refractive errors.