The Factors Influencing Visual Development in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

Abstract

<h4>PURPOSE</h4> <p>To investigate the factors influencing visual development in blepharophimosis-ptosis-epicanthus inversus syndrome.</p> <h4>MATERIALS AND METHODS</h4> <p>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.</p> <h4>RESULTS</h4> <p>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.</p> <h4>CONCLUSIONS</h4> <p>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.</p> <p><cite>J Pediatr Ophthalmol Strabismus</cite> 2006;43:285-288.</p> <h4>AUTHORS</h4> <p>The authors are from the Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.</p> <p>Originally submitted December 9, 2004.</p> <p>Accepted for publication July 6, 2005.</p> <p>Address reprint requests to Sei Yeul Oh, MD, Department of Ophthalmology, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, Seoul 135-710, Korea.</p>

Clinical, Radiologic, and Genetic Features in Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome in the Indian Population

“…In our series, 52% of affected individuals were females and 48% were males. Previous investigators have reported an incidence of 30% to 54% in males and 46% to 70% in females, 1,3,4,6 and our results are within this range. In our patients, a positive family history was noted in 9 out of 33 (27%) cases.…”

“…Although previously described in literature, none of our cases had vertical deviations. 1,3,4,6 The incidence of refractive error was 95% in our series, which is significantly higher than the previously reported range of 34% to 70%. 1,3,4,6 We found simple hyperopia and astigmatism to be the most common types of refractive error in our patients.…”

“…In other studies, severe ptosis has been reported in 60% to 70% cases and moderate ptosis in 30% to 40% cases. 1,3,4,6 The incidence of strabismus in BPES cases has been reported as 20% to 55%. 1,3,4,6 In our study, strabismus was found in 40% cases, which included esotropia in 30% and exotropia in 10% cases.…”

“…1 Other ophthalmic associations include raised arched eyebrows, abnormalities of the eyelid margin and lacrimal drainage apparatus, strabismus, microphthalmos, and optic disc colobomas. 3,4 Two types of BPES have been classified: Type I is a complex eyelid malformation associated with premature ovarian failure (POF) whereas in Type II cases, only the eyelid defect is present. 5 Nonocular associations include a broad flat nasal bridge, high arched palate, protruding or cup shaped ears, female infertility (ovarian failure), and cardiac defects.…”

“…5 Nonocular associations include a broad flat nasal bridge, high arched palate, protruding or cup shaped ears, female infertility (ovarian failure), and cardiac defects. 3,4,6 Mutation in the FOXL2 gene located on the chromosome 3q23 region has been described as a cause of BPES. 7 FOXL2 is a single exon gene of 2.7 kb that encodes a protein of 376 amino acids, containing a 110 amino acid DNA-binding fork head domain and a polyalanine (poly-Ala) tract of 14 residues of unknown function.…”