Effectiveness of levator muscle resection combined with Mustarde's double Z-plasty for blepharophimosis-ptosis-epicanthus inversus syndrome / 中国修复重建外科杂志

Objective: To investigate the effectiveness of levator muscle resection combined with Mustarde's double Z-plasty to correct blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). Methods: Between March 2015 and June 2017, one-stage operation of levator muscle resection combined with Mustarde's double Z-plasty were performed on 26 children with bilateral BPES. There were 16 boys and 10 girls with an average age of 7 years (range, 4-14 years). All patients marked the four typical signs of BPES. There were 7 cases accompanied with a low nasal bridge, and 20 cases with amblyopia and strabismus. The length of eye fissure was (19.5±4.5) mm, the width of eye fissure was (2.5±1.6) mm, the diameter of inner canthus was (42.1±6.5) mm, and the muscular strength of levator palpebrae superioris was (5.5±1.3) mm. Results: All the incisions healed by first intention. Twenty-three patients were followed up 2-12 months, with an average of 10 months. Among which, 2 cases were less corrected, 3 cases were over corrected, 6 cases had poor curvature of the eyelid. No eyelid internal and external pronation or keratitis occurred. Amelioration of blepharoptosis and epicanthus was achieved in the other patients, and the double eyelid fold was naturally smooth. At 7 days after operation, the length of eye fissure was (27.2±1.9) mm, the width of eye fissure was (12.5±1.3) mm, and diameter of inner canthus was (29.4±2.6) mm, which were superior to preoperative values ( t=0.127, P=0.042; t=0.341, P=0.029; t=0.258, P=0.038). There was no angular deformity caused by the width and length regressions of eye fissures. Conclusion: The levator muscle resection combined with Mustarde's double Z-plasty can effectively correct BPES and obtain good effectiveness.

Unilateral anterior persistent fetal vasculature in a child with blepharophimosis‑ptosis‑epicanthus inversus syndrome: A surgical challenge.

Blepharophimosis‑ptosis‑epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disease. It is clinically characterized by four major features; blepharophimosis, ptosis, epicanthus inversus, and telecanthus. We report a case of a 1‑year‑old female with BPES with unilateral anterior persistent fetal vasculature (PFV). On examination, she was found to have all the clinical features of BPES, along with calcified and partially absorbed cataract with elongated ciliary processes in her left eye. B‑scan of left eye showed attached retina with no evidence of posterior PFV. Systemic examination was normal. She underwent cataract surgery with primary posterior capsulotomy with intraocular lens implantation under general anesthesia. Literature search did not reveal any previous reports of unilateral anterior PFV and BPES. The clinical features, other associations, and the difficulties in the surgical management of this condition are discussed.

Novel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.

is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle abnormalities, microcornea, trabecular dysgenesis, optic nerve hypoplasias, and colobomas of the optic disk. We describe a case of BPES with Axenfeld–Rieger syndrome, a neurocristopathy characterized by maldevelopment of the anterior segment with predisposition to development of glaucoma. Interestingly, both syndromes are caused by mutations in the same class of genes, namely the winged‑helix/ forked transcription factors (FOX) involved in a variety of developmental processes.

Mutational Analysis of FOXL2 Gene in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) Patients

PURPOSE: The purpose of this paper is to identify the forkhead transcription factor gene (FOXL2) mutations in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: We have analyzed the mutations of FOXL2 gene in genomic DNAs extracted from 16 BPES patients and their families by PCR, PCR-SSCP, and sequencing. RESULTS: No deletion in exon 1 to 3 of the FOXL2 gene was observed by PCR. The PCR products were subjected to SSCP analysis and 9 patients showed SSCP shifts. The PCR products showing SSCP shifts were subcloned into plasmid vectors and sequenced to confirm the FOXL2 mutation. In total, 7 mutations (1 nonsense mutation, 1 deletion, and 5 duplications) in exon 2 were identified. CONCLUSIONS: The FOXL2 gene mutations were identified in the Korean BPES patients. Some of the mutations were previously reported and some were new mutations. This study will contribute to the molecular analysis and clinical counseling of BPES patients.

Mutation analysis of the FOXL2 gene in a big Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome type Ⅰ / 解放军医学杂志

Objective To identify the genetic mutation of the gene FOXL2 in a big Chinese family with 4 generations,8 patients and 11 health members which have blepharophimosis-ptosis-epicanthus-inversus syndrome(BPES) type Ⅰassociated with ovarian dysfunction,and demonstrate the correlation between clinical phenotype and genotype.Methods The peripheral blood samples,with 5ml EDTA as decoagulant,from 8 patients and 11 health people in a big Chinese family affected with BPES typeⅠwere collected.The genomic DNA from peripheral blood leukocytes was extracted.7 pairs of primers were designed by the Oligo6 according to the sequence of the FOXL2 gene(GenBank ID AF301906).The exons and the putative core promoter of the FOXL2 gene were amplified using polymerase chain reaction(PCR),and mutation was analyzed by sequencing DNA fragments.Results A novel nonsense mutation at nucleotides in the FOXL2 gene was found in the eight affected patients of the big Chinese family with BPES typeⅠ.No mutation was found in any of the health members in the big Chinese family.Conclusion This is the first reported mutation of the FOXL2 gene in a big Chinese family with BPES typeⅠ.This nonsense mutation in the FOXL2 gene may be an important pathogenesis for the BPES typeⅠin this big Chinese family.It is the first time that a novel nonsense mutation in the FOXL2 gene has ever been found to demonstrate a close correlation between genotype and BPES typeⅠ.