Phenotype and genetic variant analysis of seven pedigrees affected with blepharophimosis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical manifestations and gene variants of patients with blepharophimosis, ptosis and epicanthus inversus syndrome (BPES).@*METHODS@#Clinical data of 7 pedigrees affected with BPES were collected, and genomic DNA was extracted from peripheral blood samples of the probands and their relatives. All exons of the FOXL2 gene were subjected to Sanger sequencing. Those with negative findings were further screened by targeted capture and next generation sequencing (NGS) and microarray analysis. Pathogenicity of candidate variants were predicted by search of PubMed and related databases, and the impact of the variants was interpreted by protein prediction software. Diagnosis was confirmed by clinical phenotype, medical history and mutation analysis.@*RESULTS@#A pathogenic variant was identified in six of the 7 pedigrees, which included four known pathogenic variants and one novel FOXL2 c.299dupA variant. A heterozygous 3q22.3q23 deletion, which encompassed the FOXL2 gene, was identified in another pedigree.As predicted, the c.299dupA frameshift mutation of FOXL2 gene can lead to the premature termination of protein translation, which is pathogenic.@*CONCLUSION@#A novel and 5 known pathogenic variants have been identified in six pedigrees affected with BPES by the combined Sanger sequencing, target capture NGS and microarray analysis. Above findings have enabled genetic counseling and prenatal diagnosis for these pedigrees.

Identification of a novel missense variant of the KAT6B gene in a child with Say-Barber-Biesecker-Young-Simpson syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child suspected for Say-Barber-Biesecker-Young-Simpson syndrome.@*METHODS@#Genomic DNA was extracted from peripheral blood samples of the child and her parents. Whole exome sequencing was carried out for the proband. Suspected variants were validated by Sanger sequencing. The impact of the variants was predicted by bioinformatic analysis.@*RESULTS@#The child was found to harbor a de novo missense variant c.2623C>T (p.Asp875Tyr) in exon 13 of the KAT6B gene. The variant was previously unreported, and was not recorded in the major allele frequency database and predicted to be pathogenic based on PolyPhen-2, MutationTaster and PROVEAN analysis. As predicted by UCSF chimera and CASTp software, the variant can severely impact the substrate-binding pocket of histone acetyltransferase, resulting in loss of its enzymatic activity. Based on standards and guidelines by the American College of Medical Genetics and Genomics, the variant was classified to be likely pathogenic (PS2+PM2+PP3).@*CONCLUSION@#The child's condition may be attributed to the de novo missense c.2623C>T (p.Asp875Tyr) variant of the KAT6B gene.

A case of SBBYSS syndrome caused by KAT6B gene variant / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and molecular genetics features of a family affected with Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS).@*METHODS@#High-throughput sequencing was used to detect copy number variations (CNVs) and pathogenic variant within the whole exome of the affected child.@*RESULTS@#No pathogenic CNV was found in the child, while exome sequencing identified a heterozygous c.3367_c.3370delAGAA (p.Arg1123Argfs*6) frameshifting variant in the exon 16 of the KAT6B gene. The same variant was not found in either parent.@*CONCLUSION@#The c.3367_c.3370delAGAA (p.R1123Rfs*6) probably underlies the disease in the affected child. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Tratamento cirúrgico da ptose palpebral moderada e grave: análise de resultados / Surgical treatment of moderate and severe ptosis: analysis of results

Introdução: A ptose palpebral é uma afecção comum na prática clínica na qual uma perfeita avaliação torna-se mandatória. Definimos ptose quando a margem palpebral encontra-se abaixo de 2 mm da junção córneo escleral e pode ser classificada em leve, moderada e grave. Existem inúmeras técnicas de reparo e a escolha dependerá da classificação da função do músculo levantador. Métodos: Foram analisados de forma prospectiva, no período de março de 2013 a maio de 2015, quatorze (n = 14) pacientes submetidos ao tratamento cirúrgico de ptose palpebral moderada e grave (n = 21). Inúmeros fatores foram estudados, tais como grau de ptose e função do músculo elevador da pálpebra, tipo de técnica de reparo, complicações imediatas e tardias, etc. Resultados: Quatorze pacientes foram opera-dos, totalizando 21 pálpebras, sendo que, 85% foram de etiologia adquirida e 15% congênita. Com relação ao grau de ptose, 64,3% (n = 9) foram moderadas e 35,7% (n = 5) graves. No que tange à função do músculo levantador, encontramos função boa 28,5% (n = 4), moderada 28,5% (n = 4) e pobre 43% (n = 6). Em relação às com-plicações, 2 casos de hiperemia conjutival e um caso de edema. Obtivemos um alto índice de satisfação com 85,7% (n = 12), com baixas taxas de complicações. Conclusão: A ptose palpebral é uma enfermidade comum na prática clínica e exige por parte do cirurgião um perfeito conhecimento anatômico da delicada estrutura palpebral e também de sua fisiopatologia. Uma perfeita avaliação desse paciente torna-se mandatória para o emprego do tratamento mais adequado.

Introduction: Eyelid ptosis is a common condition in clinical practice for which a complete evaluation is mandatory. Ptosis is defined when the eyelid margin is 2 mm below the corneoscleral junction and can be classified as mild, moderate, and severe. There are numerous repair techniques, and the choice will depend on the classification of the function of the levator muscle. Methods: We evaluated prospectively, from March 2013 to May 2015, 14 patients who underwent surgical treatment of moderate and severe ptosis (n = 21). Several factors were studied, such as degree of ptosis and function of the eyelid levator muscle, type of repair technique, and immediate and late complications. Results: Fourteen patients (21 eyelids) underwent operation. The etiology was acquired in 85% of the cases and congenital in 15%. With respect to the degree of ptosis, 64.3% (n = 9) of the cases were moderate and 35.7% (n = 5) were severe. With respect to the muscle function of the levator, good, moderate, and poor functions were observed in 28.5% (n = 4), 28.5% (n = 4), and 43% (n = 6) of the cases, respectively. With regard to complications, 2 cases of conjunctival hyperemia and one case of edema were observed. We obtained a high satisfaction rate of 85.7% (n = 12), with low complication rates. Conclusion: Eyelid ptosis is a common presentation in clinical practice and requires on the part of the surgeon a detailed anatomical knowledge of the delicate structure of the eyelid and its pathophysiology. A complete evaluation of these patients is mandatory for the employment of the most appropriate treatment.

Accidental lacrimal gland removal during resection of the levator palpebrae superioris muscle / Remoção acidental da glândula lacrimal em cirurgia de ressecção do músculo levantador da pálpebra superior

ABSTRACT Accidental removal of the lacrimal gland is a rare complication of ptosis surgery. We report two children who underwent large unilateral levator palpebrae superioris resections (LPSr). After surgery, both patients developed dry eye. Post-operatively, the parents of both patients noticed no tears in the affected eye when their child cried. Computed tomography proved the absence of the lacrimal gland in the operated eye in both patients. Oculoplastic surgeons should pay close attention to the anatomy of the levator muscle and its proximity to surrounding tissues in order to avoid lesions on important orbital structures, including the lacrimal gland, and to avoid the development of long-term dry eye.

RESUMO A remoção acidental da glândula lacrimal é uma complicação rara da cirurgia de ptose. Relatamos duas crianças que foram submetidas à grandes ressecções unilaterais do músculo levantador da pálpebra superior que desenvolveram olho seco após a cirurgia. No pós-operatório, os pais notaram ausência de secreção lacrimal durante o choro no olho operado. Tomografia computadorizada de órbitas comprovou ausência da glândula lacrimal no olho submetido à cirurgia, em ambos os casos. Cirurgiões oculoplásticos devem estar atentos à anatomia do músculo levantador e estruturas relacionadas para evitar lesões em importantes estruturas orbitais como as da glândula lacrimal que podem induzir permanente olho seco.

Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis.</p><p><b>RESULTS</b>A heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic.</p><p><b>CONCLUSION</b>Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.</p>

Blepharophimosis Ptosis Epicanthus Inversus Syndrome (BPES) type 1 in an Indian Family / Journal of the ASEAN Federation of Endocrine Societies

@#Blepharophimosis ptosis epicanthus inversus (BPES) is a relatively rare congenital disorder, which usually presents with classical eye manifestations. In some cases, it is associated with premature ovarian failure (POF). BPES is of two types, type I and type II. Type I is associated with POF along with eyelid malformations, while Type 2 has only eyelid malformations. Here, we report a family of BPES, in whom two sisters presented with secondary amenorrhea. On eye examination, they have blepharophimosis, ptosis, epicanthus inversus and telecanthus. Investigations revealed hypergonadotropic hypogonadism. Their father also has similar eye manifestations. Diagnosis of BPES type I was made and both were started on hormone replacement therapy. To make timely diagnosis of BPES, every patient with POF should specifically be checked for eye manifestations.

Clinical diagnose and significance of congenital sensorineural hearing loss combined with BPES / 临床耳鼻咽喉头颈外科杂志

To analyze congenital sensorineural hearing loss combined with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). For the case of cochlear implantation to child with congenital sensorineural deafness combined BPES, accomplish routine examination and assessment, combining with literature to analyze the clinical diagnosis of this disease and its significance. Sensorineural hearing loss is a common congenital diseases with neonatal incidence of 1 per thousand - 3 per thousand, 50%-70% of deafness is associated with genetic factors, the incidence of congenital sensorineural hearing loss combined with eye disease is about 40%-60%, mainly reflected in ametropia and retinopathy. BPES's main clinical manifestations is blepharophimosis, ptosis, epicanthus inversus, and telecanthus. BPES is a rare autosomal dominant disease caused by FOXL 2 gene mutation, sometimes associated with retarded growth, delayed development, congenital heart disease, and microcephaly. Suffering from both sensorineural hearing loss and BPES is rare in reported literature. This case is diagnosed by clinical examination, without visual impairment. Facial nerve dysplasia has been found during the surgery. For congenital deafness patients with eye disease or other diseases, timely and correct diagnosis has important clinical significance, which can improve the diagnostic rate and make it coming true to early intervention, and then, effectively improve the quality of the patients. There are few literature reports, of patients with two kinds of genetic diseases. Our inference is that the cases are rare or the patients has visited different departments and ignored the other systems' signs. Therefore, in such doubtful cases, we should do the professional comprehensive examination in daily clinical work in order to avoid missed diagnosis or delayed treatment and intervention. By analyzing this case, the patient may also suffer from facial nerve dysplasia. Preoperatively viewing CT scan and operatively facial nerve monitor being used can avoid the occurrence of surgical complications.

Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot / 中华医学遗传学杂志

OBJECTIVE To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. METHODS Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis (CMA) was performed for the three individuals and the fetus. RESULTS Chromosomal analysis has suggested normal karyotypes for the child and her parents. However, a de novo 8.9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA. The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion. Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay. The patient's phenotype was in accordance with such spectrum. Her parents and sib did not show this variation by CMA. CONCLUSION The de novo interstitial deletion of 3q22.1-q23 probably underlies the main clinical manifestation in this child. CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.

Tratamento cirúrgico da blefaroptose congênita / Surgical treatment of congenital blepharoptosis

A blefaroptose é o posicionamento inadequado da pálpebra superior, estando abaixo de sua posição normal na posição primária do olhar, a qual seria 0,5 – 2mm abaixo do limbo superior. Pode causar bloqueio parcial ou completo do campo visual superior, além do comprometimento estético. As causas são categorizadas em congênitas ou adquiridas. É considerada congênita se presente ao nascimento ou diagnosticada no primeiro ano de vida. As principais técnicas utilizadas para o tratamento da ptose congênita são a ressecção da aponeurose do músculo levantador da pálpebra superior (MLPS) e a suspensão frontal. A medida da função do MLPS é o parâmetro mais importante na escolha da técnica cirúrgica. Quando a função é fraca, a suspensão frontal é mais indicada; a ressecção supramáxima do MLPS também pode ser empregada. Acima de 4 ou 5mm de função do MLPS, prefere-se a ressecção da aponeurose. Para a cirurgia de suspensão frontal, vários são os materiais utilizados, portanto apresentamos uma comparação entre os estudos mais relevantes. Discutiremos também particularidades em casos mais complicados, como as Síndromes da Blefarofimose e de Marcus-Gunn, além de técnicas cirúrgicas menos utilizadas e as complicações relatadas.

The blepharoptosis is the improper positioning of the upper eyelid, being below its normal position in primary gaze, which is 0.5 - 2mm below the superior corneal limbus. It may block partially or completely the upper visual field, and lead to aesthetic commitment. The causes are categorized as congenital or acquired. It is considered congenital if present at birth or diagnosed during the first year of life. The main techniques used for the treatment of congenital ptosis are the resection of the levator muscle aponeurosis and the frontalis suspension. The function of the levator muscle is the most important parameter to define the surgical technique. When the function is weak, the frontalis suspension is more appropriate; the supra-maximal resection of the levator muscle may also be employed. With function above 4 or 5mm, the resection of the aponeurosis is preferred. For the frontalis suspension surgery, various materials can be used, so we present a comparison of the most relevant studies. We also discuss some characteristics in more complicated cases, such as the Blepharophimosis syndrome and the Marcus-Gunn syndrome, and surgical techniques less performed and complications reported.

Single stage surgery for Blepharophimosis syndrome.

Purpose: The purpose of this study was to report the functional and cosmetic outcome of single stage surgical procedure for correction of the classic components of Blepharophimosis syndrome. Materials and Methods: We report a retrospective case file review of 11 patients with Blepharophimosis syndrome operated between July 2004 and April 2008. Each patient had undergone the correction of epicanthus inversus, telecanthus, palpebral phimosis, and bilateral ptosis as a single-stage surgical procedure. Patients were examined and photographed before and after surgery. The mean follow-up was 3 years (range 2-6 years). Results: A total of 11 patients (8 males, 3 females) with a mean age of 9 years (range 6--22 years) were reviewed. The surgical outcome was assessed both functionally and cosmetically. The mean preoperative visual acuity was 0.729 ± 0.316 SD and the mean postoperative visual acuity was 0.856 ± 0.277 SD (P <0.0428). There was a statistically significant decrease of astigmatism following ptosis correction (P<0.05), improvement of telecanthus (P<0.0001) in terms of IICD (inner intercanthal distance), and HPFL (horizontal palpebral fissure length) (P=0.019) along with improvement of the superior visual field. The mean preoperative and postoperative IICD was 3±0.33 SD and 2.418 ± 0.189 SD, respectively. There was also a significant postoperative improvement of ptosis (P< 0.01), as measured by IPFH (vertical interpalpebral fissure height). All the patients had a stable functional and cosmetic result after a mean follow-up period of 3 years. Conclusion: Single-stage surgical correction of the classic anomalies of Blepharophimosis syndrome provides stable and successful long-term results.

Unusual manifestation of Marden-walker syndrome.

Marden-Walker syndrome (MWS) is characterized by multiple joint contractures, a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, arachnodactyly, and kyphoscoliosis. We report a case of MWS along with unusual manifestation of neurological, cardiovascular, and genitourinary system.

Effect of the Simultaneous Operation of Levator Resection and Frontalis Suspension for Congenital Ptosis

PURPOSE: To determine retrospectively if a simultaneous frontalis suspension could change the result of undercorrection observed during levator resection in congenital ptosis patients with poor levator functions. METHODS: Eight eyes in the present study were from 5 infants, 4 infants had congenital ptosis and 1 infant had blepharophimosis. The average age was 3.3 years (range: 1.5 to 6.9 years). If the upper lid margin was not positioned on the superior limbus after performing levator resection under general anesthesia, the height of the upper lid margin was controlled by simultaneous frontalis suspension. RESULTS: The average follow-up period was 29.8 months. After surgery on both eyes, all 8 cases showed good results and sudden relapse did not occur. Exposed corneal erosion was observed in 6 eyes, but with artificial tears, eye drops, and ointment there were significant improvements within 1 month in all cases. At final examinations, 6 out of 8 eyes showed excellent or good results; undercorrection in 2 eyes was observed and the lateral portion of ptosis in 1 eye was observed as an eye complication. CONCLUSIONS: If undercorrection caused by levator resection occurs in patients with congenital ptosis, the combination of frontalis suspension surgery may reduce undercorrection and any recurrence that might appear after surgery.

Anesthesia of a patient with Dubowitz syndrome: A case report / 대한마취과학회지

Dubowitz syndrome is a rare autosomal recessive disorder that leads to growth retardation (intrauterine, postnatal), mental retardation, a peculiar face, microcephaly, behavioral problems and eczema. The peculiar face of individuals with Dubowitz syndrome includes sparse hair and eyebrows, low-set ears, blepharophimosis, bilateral ptosis, a flat nasal bridge with a broad nasal root and micrognathia. Airway management of such individuals might be difficult due to craniofacial anomalies, such as micrognathia, cleft palate, tooth problems and craniocervical anomalies. In addition, anesthetic management may be complicated by other systemic illnesses. We report the uneventful anesthetic management of a 16-year-old girl with Dubowitz syndrome who underwent a total abdominal hysterectomy after a pelvic examination under general anesthesia. We report this case of Dubowitz syndrome with a review of the relevant literature.

Estudos moleculares em anomalias craniofaciais raras: sindrome blefaroqueilodontica e efeitos de linha media facial com hipertelorismo / Molecular biological studies in rare craniofacial anomalies

A Síndrome Blefaroqueilodôntica (BCD) e os Defeitos de Linha Média Facial com Hipertelorismo (DLMFH) são defeitos craniofaciais raros. Por esse motivo, os estudos de grandes casuísticas têm sido limitados. Contribuição científica significativa neste assunto tem sido dada por nosso grupo, que delineou características clínicas e diretrizes para seguimento de longo prazo e evidenciou achados neuroradiológicos em ambas as anomalias. Embasado nesses achados preliminares e evidências recentes da literatura pertinente, foi possível estabelecer uma estratégia inicial para investigação etiológica da BCD e dos DLMFH, sendo os objetivos desse projeto: investigar a etiologia da BCD nos indivíduos afetados pela síndrome, por meio de estudo dos genes candidatos IRF6, P63, OSR2, TBX10, FOXE1, SHH, FGF8 e PAX3; pesquisar, nos indivíduos com DLMFH, a presença de mutações nos genes candidatos SHH, FGF8 e PAX3; identificar, em ambas as malformações, possíveis alterações cromossômicas; e, por último, associar os achados clínicos detectados nas investigações anteriores aos possíveis achados moleculares. Foram utilizadas técnicas de sequenciamento direto, array-CGH, genotipagem automática e hibridação in situ por fluorescência. Não foi possível relacionar nenhuma mutação pontual nos genes estudados associadas às malformações em questão, pois não foram encontradas alterações gênicas patogênicas. Entretanto foram detectadas em pacientes com DLFMH três aberrações cromossômicas em regiões distintas do genoma, tratando-se de um caso de duplicação no cromossomo...

The Blepharocheilodontic Syndrome (BCD) and Midline Facial Defects with Ocular Hypertelorism (MFDH) are rare craniofacial anomalies. Considering the rarity of these two groups of congenital defects, studies with large casuistry have been limited. Our group has significantly contributed to the scientific knowledge about both anomalies, delineating clinical characteristics, evidencing neurological findings and designing protocols for long term follow-up. Based in these preliminary findings and recent evidences of pertinent literature, it was possible to determine an initial etiologic investigation strategy for the BCD and the MFDH. The objectives of this project are to investigate the etiology of the BCD in affected individuals through IRF6, P63, OSR2, TBX10, FOXE1, SHH, FGF8 and PAX3 candidate genes study; to search MFDH patients for mutations in the SHH, FGF8 and PAX3 candidate genes; to identify, in both syndromes...

Freeman-Sheldon syndrome: a case report

The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia, in which fibrotic contractures of the facial muscles result in the characteristic "whistling face". Difficulties with intubation may be attributed in part to microstomia and micrognathia. In addition to other deformities, limb myopathy results in ulnar flexion contractures of the hand and equinovarus/valgus deformities of the feet. Intravenous access may be difficult because of limb deformities and thickened subcutaneous tissues. Limbs may be encased in plaster casts or splints limiting the available sites for venepuncture. The authors report with a review of literature the case of an infant with Freeman-Sheldon syndrome, which his characteristics was mentioned above

Epicanthoplasty Using Y-V Advancement Flap Method

PURPOSE: The epicanthal fold is a unique finding in the medial canthal area of many Asians. Various methods have been developed to eliminate this fold. However, excessive and prominent scarring in the medial canthal and nasal area and recurrence restricted application of epicanthoplasty. The authors performed a epicanthoplasty using Y-V advancement flap method in order to obliterate the epicanthal fold without making incisions in the nasal area and as a result, to avoid postoperative scarring. METHODS: Sixty one patients underwent epicanthal fold correction using Y-V advancement flap method from July 1999 to February 2005. There were 4 males and 57 females with ages ranging from 9 to 60 years. The epicanthoplasty was performed combined with double eyelid operation, ptosis correction, augmentation rhinoplasty, nasal alar reduction, and nasal tip-plasty. RESULTS: There were few complications in our studies, and most of the patients were satisfied with the results. CONCLUSION: Remarkable advantages of our Y-V advancement flap epicanthoplasty are as follows: 1) minimal postoperative scarring in the medial canthal area, 2) application of modified double eyelid operation, 3) wider opening of the medial palpebral fissure, 4) the correction of entropion or epiblepharon, 5) no recurrence.

Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report / 대한마취과학회지

Young-Simpson Syndrome (YSS) is a rare malformation syndrome characterized by facial dysmorphism, congenital heart abnormalities, congenital hypothyroidism and severe growth retardation. A 5-month-old girl was scheduled to undergo patch closure of atrial septal defect. She had been diagnosed with YSS preoperatively. We report out clinical experience of a case of YSS patient with brief review of related literatures and relevant anesthetic problems.

Histological and ultrastructural study on the medial canthal ligament of blepharophimosis, ptosis and epicanthus inversus syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a rare congenital ophthalmic disorder, characterized by congenital eyelid malformation including bilateral ptosis, shortening of the horizontal eyelid fissure, epicanthus inversus, and increased distance between the inner canthi. In this research, we studied the histological structure and ultrastructure of medial canthal ligament of patients with BPES.</p><p><b>METHODS</b>Thirty patients with BPES who received plastic surgery at the Zhongshan Ophthalmic Center from March 2006 to January 2008 were studied. There were 17 males and 13 females with an average age of (8.73 +/- 3.37) years (3 - 31 years). The medial canthal ligaments of patients were collected during the plastic surgery to analyze the histological structure by hematoxylin and eosin (HE), Congo red, van Gieson's (VG), Masson trichrome and aldehyde-fuchsin staining. The ultrastructures of the medial canthal ligaments were also analyzed by scanning electron microscopy (SEM) and transmission electron microscopy (TEM). Fifteen samples of medial canthal ligament from healthy persons with an average age of (9.02 +/- 3.12) years (6 - 30 years) were collected as a control group.</p><p><b>RESULTS</b>Morphological and histological study showed that the medial canthal ligaments of BPES patients were composed of collagen fibers, a few elastic fibers and striated muscles. The collagen fibers assemblies were disorganized and the fibrous connective tissues were undergoing hyaline degeneration. The karyopycnosis of fibroblasts was located among the collagen fibrils and the numbers of fibroblasts were decreased. Ultrastructural study with SEM showed that the collagen fibers were larger than normal, irregular and loose. Parts of the collagen fibers were broken and had a coarse surface. Ultrastructural study with TEM showed that the fibroblasts had less cytoplasm, fewer organelles and the nucleus displayed pyknosis.</p><p><b>CONCLUSIONS</b>The medial canthal ligament in BPES patients is composed chiefly of collagen fibers. The collagen fibers of medial canthal ligaments in BPES patients are disorganized and hyaline degeneration is present. The study revealed that the medial canthal ligament of BPES patients might have congenital dysplasia.</p>