An unusual case of ptosis.

Blepharophimosis is a condition where the patient has bilateral ptosis with reduced lid size, vertically and horizontally. The nasal bridge is flat and there is hypoplastic orbital rim. Here I am presenting a case of a father & son with blepahrophimosis which could be a part of an uncommon condition called BPES (Blepharophimosis, Ptosis, Epicanthus Inversus, Telecanthus).

Visual functional development in blepharophimosis-ptosis-epicanthusinversus syndrome(BPES)and multistage correction / 眼科

Objective To study the development of visual function in blepharophimosis-ptosis-epianthusinversm syndrome(BPES) and evaluate the clinical effect of Multistage Correction.Design Retrospective case series.Participants 51 cases of BEPS in Beijing Tongren Hospital from June 2005 to May 2009.Methods Refraction and general ophthalmology were performed for each patient. Family history was inquired and corrected surgery were performed for every one.Main Outcome Measures Refraction,the length, width of palpebral fissure,and inner canthal distance were measured both preoperatively and postoperatively.Results 13 of the 51 cases had family history,27 cases had amblyopia and 12 cases had refractive error.4 cases combined with strabismus.Conclusions The risk of refractive error and amblyopia in patients with BPES is much higher than that of normal population,so careful regular visual follow -up and early surgery are necessary.BPES patients tend to have much more chance to get amblyopia,which will impact on the development of visual function,therefore surgery correction at early age is highly suggested.

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.