Surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in treatment of Blepharophimosis syndrome.

PURPOSE: To evaluate the surgical outcome of epicanthus and telecanthus correction by C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome. PATIENTS AND METHODS: This was a retrospective single arm interventional study including 18 eyes of 9 patients with Blepharophimosis-ptosis-epicanthus inversus syndrome who presented to oculoplastic clinic, ophthalmology department, Qena university hospital in the period of between July 2020 to April 2021. All the patients had BPES with epicanthus and telecanthus. All cases were subjected to by C plasty with medial and lateral canthoplasty for correction of epicanthus and telecanthus correction followed by frontalis suspension surgery to correct the co-existing blepharoptosis. RESULTS: The study included 9 cases of BPES, 6 boys and 3 girls, the mean age was 5.4 ± 1.5 in the study group, all patients had a positive family history for BPES. After surgery, the mean IICD decreased from 38.44 mm preoperatively to 32.8 mm postoperatively, with a mean difference of 6.2 mm (P <  0.001). Likewise, the mean PFL increased from 20.78 mm preoperatively to 26.63 mm postoperatively, with a mean difference of 5.8 mm (P <  0.001). Epicanthus skin fold disappeared in all cases and medical canthus could be seen with well healed difficulty seen scars. CONCLUSION: C-U medial canthoplasty with lateral canthoplasty in Blepharophimosis Syndrome was found to be an effective procedure in the correction of epicanthus and telecanthus.

A critical appraisal of surgical outcomes following orbital hypertelorism correction: what is the incidence of true bony relapse versus soft tissue telecanthus?

BACKGROUND: Orbital hypertelorism (OHT) represents a congenital condition defined by lateralization of the bony orbit, unlike soft tissue telecanthus in which there is an increase in intercanthal distance without true bony lateralization. Existing literature remains very limited in its postoperative assessment of bony versus soft tissue relapse, which may both clinically present as telecanthus. We performed a critical appraisal of the literature to determine the postoperative incidence of bony versus soft tissue relapse following OHT repair. METHODS: The PubMed, MEDLINE, EMBASE, Scopus, Cochrane Central Register of Controlled Trials, and clinicaltrials.org were searched systematically for all English studies published in any time frame reporting relapse rates following primary OHT repair. The primary outcome was incidence of bony and soft tissue relapse defined as orbital lateralization and medial canthal drift, respectively. The secondary outcome measures include postoperative complications, predictors of postoperative complications, timing and type of surgery, and revision rates. RESULTS: Eleven articles were included. A total of 84 (35.3%) patients experienced bony relapse while 43 (27.2%) patients experienced soft tissue relapse. Age at time of intervention (p < 0.92), severity at presentation (p < 0.90), and surgical technique (p < 0.09) were not found be significantly associated with relapse rate. Methods for long-term follow-up were not standardized, and there was no consistent measure to objectively assess telecanthus. CONCLUSIONS: There is no general consensus on predictive factors of long-term relapse following OHT repair in the form of box osteotomy or facial bipartition. These findings call for cross-sectional outcome standardization to better understand long-term outcomes across institutional, provider, and patient differences.

Nablus syndrome: Easy to diagnose yet difficult to solve.

Nablus syndrome was first described by the late Ahmad Teebi in 2000, and 13 individuals have been reported to date. Nablus syndrome can be clinically diagnosed based on striking facial features, including tight glistening skin with reduced facial expression, blepharophimosis, telecanthus, bulky nasal tip, abnormal external ear architecture, upswept frontal hairline, and sparse eyebrows. However, the precise genetic etiology for this rare condition remains elusive. Comparative microarray analyses of individuals with Nablus syndrome (including two mother-son pairs) reveal an overlapping 8q22.1 microdeletion, with a minimal critical region of 1.84 Mb (94.43-96.27 Mb). Whereas this deletion is present in all affected individuals, 13 individuals without Nablus syndrome (including two mother-child pairs) also have the 8q22.1 microdeletion that partially or fully overlaps the minimal critical region. Thus, the 8q22.1 microdeletion is necessary but not sufficient to cause the clinical features characteristic of Nablus syndrome. We discuss possible explanations for Nablus syndrome, including one-locus, two-locus, epigenetic, and environmental mechanisms. We performed exome sequencing for five individuals with Nablus syndrome. Although we failed to identify any deleterious rare coding variants in the critical region that were shared between individuals, we did identify one common SNP in an intronic region that was shared. Clearly, unraveling the genetic mechanism(s) of Nablus syndrome will require additional investigation, including genomic and RNA sequencing of a larger cohort of affected individuals. If successful, it will provide important insights into fundamental concepts such as variable expressivity, incomplete penetrance, and complex disease relevant to both Mendelian and non-Mendelian disorders.

Hypertelorism.

The term orbital hypertelorism (ORH) implies "widely apart orbits." This may also be associated with the abnormal vertical orientation of the orbits (dystopia). This deformity may be unilateral or bilateral, symmetric or asymmetric and may be present in a variety of craniofacial conditions. The treatment is primarily carried out for aesthetic reasons. The timing of treatment is dictated by the underlying condition and the type of procedure envisaged. The mainstay of treatment consists of moving the orbits medially to near normal position. This is accomplished by either an orbital translocation or facial bipartition technique. The choice of procedure is governed by the shape of the maxillary arch and associated occlusal conditions. We must differentiate between the telecanthus (also called pseudo-hypertelorism) and a true ORH as the management differs in these two conditions. The ORH involves extensive intracranial and extracranial operation whereas the telecanthus correction is relatively simpler surgery. The article will discuss the aetiology, classification, presentation, treatment options, timing of surgery and the choice of surgical procedures. Illustrative case reports with long-term results will be used to explain the management of these patients.

A Rare Case of Telecanthus-Hypospadias Syndrome in a Pediatric Patient.

Hypertelorism and hypospadias are the main characteristics of telecanthus-hypospadias syndrome; however, it can also include other midline structural anomalies, such as cleft lip and palate, cryptorchidism, congenital heart problem, laryngotracheal cleft, esophageal fistula, and irregular scrotum. Here, we describe an eight-year-old male who was brought to us for cleft lip repair, but upon evaluation, the other listed anomalies were discovered. He had hypertelorism, hypospadias, a ventricular septal defect, and a history of cryptorchidism. A multidisciplinary approach involved pediatricians, oral surgeons, cardiologists, and pediatric surgeons. The patient underwent surgery for first-stage hypospadias correction and was advised to follow up for additional surgery and maintenance procedures before being discharged. We wish to report this case with the aim to enlighten budding pediatricians and surgeons about this rare syndrome.

Bilateral cataract in a child with blepharophimosis-ptosis-epicanthus inversus syndrome: A surgical challenge.

INTRODUCTION: Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant genetic disorder characterized by complex orbito-palpebral anomalies. We report a rare case of BPES associated with bilateral congenital cataract. OBSERVATION: This study reports the case of a 6-month-old infant with BPES in whom a bilateral congenital cataract was diagnosed, after the parents noticed leukocoria and signs of poor vision in their child. No other ophthalmologic manifestations commonly associated with this syndrome were found. The infant underwent cataract surgery first, with lens phacoaspiration and posterior capsulotomy coupled with anterior vitrectomy and placement of a 3-piece foldable hydrophobic posterior chamber lens in the capsular bag. The surgery was a real challenge due to the orbito-palpebral anomalies that limited a small surgical space, and the placement of the IOL was a matter of discussion. DISCUSSION: Publications on the association of congenital cataract with BPES are very rare. The link between these two anomalies is difficult to establish since different genes on different chromosomes code for the two diseases. A lateral canthotomy can be considered to overcome the surgical difficulties due to the reduced working space. The surgical management of pediatric cataract varies in the literature. CONCLUSION: This case highlights the difficulty of cataract surgery in children, even more so when associated with BPES, and the challenge of improving vision in these children given the high risk of amblyopia.

Presence and development of strabismus in children with telecanthus, epicanthus and hypertelorism.

Purpose: To study the presence and development of strabismus in children with telecanthus, epicanthus, and hypertelorism. Methods: This is a prospective, longitudinal, and observational study. Sixty children aged between 6 months and 18 years with telecanthus, epicanthus, and hypertelorism in isolation or in combination were recruited. A detailed analysis of the history, determination of best corrected visual acuity, complete evaluation of strabismus, and ocular examination were carried out. The presence of telecanthus, epicanthus, and hypertelorism and associated strabismus, if any, was noted. All children were followed up for a minimum and maximum period of 12 and 18 months, respectively, to analyze the strabismus (previously present) and for detection of strabismus in those who did not have. The data were analyzed descriptively with mean and standard deviation. Chi square test and Fishers exact test were used to analyze the data between the groups. A P value less than 0.05 was considered to be statistically significant. Results: Telecanthus was the most common lid feature (55%). At baseline, ten (16.66%) children had strabismus (six: esotropia; four: exotropia). Two (3.33%) children underwent surgery. One child developed exotropia at the third follow-up (18 months). At the end of the study, 11 (18.33%) children had strabismus. No significant association was seen between lid characteristics and the type of strabismus. Conclusion: Children with telecanthus, epicanthus, and hypertelorism in isolation or in combination may or may not have associated strabismus. These features can pose difficulty in strabismus diagnosis, which mandates a careful examination, especially in younger age groups and small-angle strabismus. On the other hand, children without strabismus need longer follow-up to detect the development of strabismus and to initiate further management at the earliest.

Multimodal imaging of retinal findings in syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome.

PURPOSE: To report multimodal imaging of novel retinal findings in a case of syndactyly, telecanthus, anogenital, and renal malformations (STAR) syndrome. OBSERVATIONS: A 5-year old patient with STAR syndrome, an ultra-rare developmental disorder composed of syndactyly, telecanthus, anogenital, and renal malformations, was found to have bilateral macular yellow pigmentary changes and peripheral retinal pigment epithelial changes in a radial pattern highlighted by fundus autofluorescence (FAF) imaging. Optical coherence tomography (OCT) of the macula revealed foveal hypoplasia, ellipsoid zone disruption, and outer retinal atrophy suggestive of a retinal degeneration. OCT angiography found no significant abnormalities, and oral fluorescein angiography revealed staining in areas of atrophy in both eyes. CONCLUSIONS AND IMPORTANCE: This case displays the first report of multimodal imaging of retinal manifestations in STAR syndrome, revealing bilateral foveal hypoplasia, outer retinal macular atrophy, and peripheral retinal pigment epithelial changes. Further studies and long-term follow-up are warranted to determine if patients with STAR syndrome have an underlying progressive retinal degeneration.

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: A Simple Remedy for Challenging Cases.

A 14-year-old male presented to the outpatient department of ophthalmology with complaints of visual impairment. The patient was assessed with a detailed history and physical examination. Marked amblyopia was observed on inspection, and his best-corrected vision was 6/36 in both eyes with no further improvement. Both the anterior and posterior segments of the eyes were normal. A diagnosis of blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) was suspected. Surgery was initiated in two stages, with the first stage utilizing Mustarde's double Z-plasty to correct the epicanthus inversus and telecanthus. The second stage was done three months later, involving a tarsofrontalis sling with prolene sutures to correct ptosis. The success of this operation speaks to the efficacy of a two-stage procedure for remedying a syndrome as complex as BPES.

Recurrent ossifying fibroma of the orbit - A case report.

RATIONALE: Ossifying fibromas are mainly found in the jaws and are rare in other parts of the cranium. Orbital involvement is relatively rare. PATIENT DETAILS: A case of an otherwise healthy 38-year-old overseas patient with gradual onset of a large growth in the right ocular area involving adjacent bone and operated twice over the last eight years is being presented. The lesion is involving the entire medial wall. TREATMENT: Considering the complex loco-regional anatomy as well as the restriction of overseas residence, preservation of a thin margin of bone was performed. TAKE-AWAY LESSONS: The need for repeat radiological surveillance was stressed.

[Management of blepharophimosis, ptosis, epicanthus inversus syndrome at a referral center in Tunisia]. / Prise en charge du syndrome de blépharophimosis ptôsis épicanthus inversus (SBPE) dans un centre de référence en Tunisie.

INTRODUCTION: Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a rare congenital hereditary abnormality. It includes complex orbital-palpebral malformations, causing aesthetic and functional ramifications. Management of BPES requires two steps : diagnosis and treatment. PATIENTS AND METHODS: We performed a retrospective descriptive study of 44 patients (88 eyelids) with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). In our series, we opted for two-stage surgery in 28 cases : epicanthus-telecanthus surgery followed by ptosis surgery. Simultaneous surgery was performed in 5 cases. RESULTS: The mean age at the first visit was 6 years (6.1±6.4). The mean age of our patients at the time of the first surgery was 6.6 years. Epicanthus surgery was performed in 35 cases. The two techniques used to correct epicanthus were Y-V plasty in 30 cases (85.7%, n=35) and Y-V+double Z plasty in 5 cases (14.3%, n=35). Correction of the telecanthus was performed at the same time by a medial canthal tendon plication in 31 cases (88.6%, n=35) or transnasal canthopexy in 4 cases (11.4%, n=35). The mean age at the time of ptosis surgery was 7.23 years (±6.25), ranging from 8 months to 27 years. Ptosis surgery was performed in 41 cases (79 eyelids), of which 3 patients underwent unilateral ptosis surgery due to asymmetrical ptosis. The techniques used were levator resection in 64 eyelids and frontal suspension in 15 eyelids. CONCLUSION: BPES is often clinically diagnosed. The difficulty in management lies in the complex surgery required. There is no established consensus regarding surgical techniques or the timing of the surgeries.

Axenfeld-Rieger Syndrome: Rare Case Presentation and Overview.

Axenfeld-Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present a case of a 10-year-old boy. Its awareness among oral surgeons is essential for timely diagnosis and subsequent prevention of ophthalmic and systemic complications as craniofacial and dental features constitute the early recognizable symptoms of this syndrome. Systematic ophthalmic surgeries aid in relieving vision abnormalities, while symptomatic dental treatment should be provided for masticatory and esthetic rehabilitation.

Clinical characterization and identification of five novel FOXL2 pathogenic variants in a cohort of 12 Mexican subjects with the syndrome of blepharophimosis-ptosis-epicanthus inversus.

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant entity characterized by eyelid malformations and caused by mutations in the forkhead box L2 (FOXL2) gene. Clinical and genetic analyses of large cohorts of BPES patients from different ethnic origins are important for a better characterization of FOXL2 mutational landscape. The purpose of this study is to describe the phenotypic features and the causal FOXL2 variants in a Mexican cohort of BPES patients. A total of 12 individuals with typical facial findings were included. Clinical evaluation included palpebral measurements and levator function assessment. The complete coding sequence of FOXL2 was amplified by PCR and subsequently analyzed by Sanger sequencing. A total of 11 distinct FOXL2 pathogenic variants were identified in our cohort (molecular diagnostic rate of 92%), including 5 novel mutations. Our results broaden the BPES-related mutational spectrum and supports considerable FOXL2 allelic heterogeneity in our population.

Frontoethmoidal meningoencephalocele: appraisal of a craniofacial surgical teaching program in Cambodia.

OBJECTIVE The treatment of frontoethmoidal meningoencephaloceles (fMECs) in Cambodia was not possible before the development of a program that taught some Khmer surgeons (working at the Children's Surgical Centre in Phnom Penh) how to surgically correct these deformities without any foreign help. The results of that teaching program are discussed in this paper. METHODS Between 2004 and 2009, both local and visiting foreign neurosurgical and craniofacial surgeons (the visitors coming twice a year) worked together to operate on 200 patients, and a report on those cases was published in 2010. In subsequent years (2010-2016), the Khmer surgeons operated on 100 patients without the presence of the visiting surgeons. In this study, the authors compare the second case series with the previously published series and the literature in terms of results and complications. The operations were performed with limited surgical materials and equipment, using a combined bicoronal and transfacial approach in most cases. Most of the patients came from very poor families. RESULTS Organizing the postoperative follow-up of these low-income patients (mean age 12 years) was probably the most challenging part of this teaching program. Nine of the patients were lost to surgical follow-up. In the other cases, cosmetic results were judged by the surgeons as worse than the patient's preoperative appearance in 1 case, poor in 12 cases, average in 27, and good in 51-data that are significantly less encouraging than the results reported by the joint local/visiting teams in 2010 (p = 0.0001). Nevertheless, patients and parents tended to have a better overall opinion about the surgical results (rating the results as good in 84% of the 80 cases in which parent or patient ratings were available). Twenty postoperative complications were observed (the most common being temporary CSF leaks). The rate of immediate postoperative complications directly related to fMEC surgery was less than that in the previous series, but the difference was not statistically significant (20% vs 28.5%, p = 0.58). No death was noted in this case series (in contrast to the previous series). Social questionnaire results confirmed that fMEC correction partially improved the adverse social and educational consequences of fMEC in affected children. CONCLUSIONS In the current state of this program, the local surgeons are able to correct fMECs in their own country, without foreign assistance, with good results in a majority of patients. Such humanitarian teaching programs generally take years to achieve the initial aims.

Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series.

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys. On further ophthalmic and paediatric evaluation the diagnosis of NF-1 was confirmed on the basis of clinical criteria. This series also describe the abnormal facial features like telecanthus and broad nose which has been reported rarely. Case 1 was kept under regular follow-up and Case 2 and Case 3 were planned for the debulking surgery for plexiform neurofibroma of upper eye lid. A multidisciplinary approach is required to diagnose and treat such patients keeping in mind the myriad of clinical manifestations and life-long follow-up is required.

Medial canthopexy of old unrepaired naso-orbito-ethmoidal (noe) traumatic telecanthus.

INTRODUCTION: Traumatic telecanthus resulting from injuries to the naso-orbito-ethmoidal (NOE) complex is a difficult deformity to treat and involves both esthetic and functional aspects. Delayed or inadequate primary treatment often results in scarring and secondary deformities that are severe and make them extremely problematic to correct. The intricate anatomy of this area makes NOE injuries one of the most challenging areas of facial reconstruction. Several techniques were described to reconstruct the medial canthal tendon (MCT) and repair the telecanthus deformity. Transnasal wiring remains the gold standard. However, the procedure is technically difficult. It necessitates wide exposure sufficient to allow transverse passage of wires through bony fenestrations deep within the orbit, and involves dissection of the contralateral orbit. AIM: This study proposes a minor modification to simplify transnasal-wiring technique in the difficult cases presenting with telecanthus following unrepaired NOE fractures. PATIENTS & METHODS: The study included 13 patients (11 males and 2 females) presenting with telecanthus, at least six months after sustaining NOE fractures. Transnasal canthopexy was the fundamental step in reconstruction. Two wires held independently the anterior and posterior limbs of the MCT to ensure an adequate grip. They were delivered in a single pass through a single hole instead of two to avoid weakening of the thin lacrimal bones. The wires were then secured to a titanium mesh fixed to the contralateral medial orbital rim to guarantee a stable fixation. RESULTS: The technique restored the normal canthal position along the lacrimal crest. Good functional and esthetic results are reported based on the measurement of pre- and postoperative intercanthal & canthal-midline distances over a period of 2-years, with an average follow-up period of 12 months. CONCLUSION: The results reveal the simplicity and reliability of this technique in restoring palpebral shape and intercanthal distance without any recoded functional complications throughout the follow-up.

Sindrome de la blefarofimosis familiar: estudio de dos familias colombianas y dos casos esporadicos / Familial blepharophimosis syndrome: study of two colombian families and two sporadic cases

El sindrome denominado blefarofimosis familiar comprende varias anomalias asociadas entre las cuales se destacan: blefarofimosis, blefaroptosis, epicanto inverso y telecanto. Se hereda en forma autosomica dominante con una penetrancia completa. Se han informado en la literatura aproximadamente 180 casos, a los cuales se adicionan 23 detectados en las 2 familias colombianos que estamos reportando a traves de 3 y 4 generaciones (familias A y B respectivamente) y dos esporadicos. Se discuten aspectos clinicos, embriologicos y geneticos relacionados con el sindrome

The blepharophimosis syndrome includes several associated anomalies, namely: blepharophimosis, blepharoptosis, epicanthus inversus and telecanthus. It is inherited as an autosomal dominant defect with essentially 100% penetrance. To the nearly 180 previously reported cases our report adds another 25 occurring in two colombian families through 3 and 4 generations (23 cases) and in 2 sporadic cases. Some related clinical, embryological and genetic aspects of this syndrome are discussed