Fibrosis congénita de los músculos extraoculares / Congenital Fibrosis of Extraocular Muscles

La fibrosis congénita de los músculos extraoculares se caracteriza por una oftalmoplejía externa congénita, no progresiva, generalmente bilateral, con ptosis y alteración de los movimientos oculares. Existen varios tipos en dependencia del gen afectado y puede estar acompañada de hallazgos adicionales tanto oculares como generales. Para el manejo de los casos se realiza cirugía de la ptosis, alineación ocular y corrección del torticolis, además de su corrección óptica y rehabilitación para maximizar el resultado visual. Con el objetivo de estar al día sobre esta enfermedad se realiza una revisión de las publicaciones de los últimos cinco años en este tema. Actualmente no hay tratamientos que puedan restaurar la funcionalidad completa y el rango de movimiento de los músculos extraoculares, pero mejorar su funcionalidad visual es primordial(AU)

Congenital fibrosis of the extraocular muscles is characterized by congenital external ophthalmoplegia, nonprogressive, usually bilateral, with ptosis and altered eye movements. There are several types depending on the affected gene and it may be accompanied by additional ocular or general findings. For the management of these cases, ptosis surgery, ocular alignment and torticollis correction are performed, as well as optical correction and rehabilitation to maximize visual outcome. In order to be updated about this disease, a review of the publications on this subject within the last five years is carried out. Currently, there are no treatments that can restore full functionality and range of motion of the extraocular muscles, but improving their visual functionality is paramount(AU)

Pulled into two syndrome (PITS) in a case of congenital fibrosis of the extraocular muscle

A four-year-old child with a clinical diagnosis of unilateral congenital fibrosis of extraocular muscles (CFEOM) was planned for inferior and medial rectus muscle recession surgery, adjusted with the status of forced duction test. Due to pathological changes within the muscles subsequent to innervational abnormality, intraoperatively the inferior rectus muscle was pulled into two following the insertion of muscle hook. Moreover, the snapped muscle fibers could not be identified, thus further surgery was abandoned and an observation was commenced. At the end of 6 weeks, there was a significant reduction in the amount of hypotropia but clinically significant perverted convergence with esotropia necessitated further surgical intervention. A second surgical intervention consisting of medial rectus transposition to superior rectus with 3 mm recession was performed to achieve acceptable results in the primary gaze.

Genetic localization and clinical classification of congenital fibrosis of the extraocular muscles in 2 Chinese families / 眼科新进展

Objective To determine the pathogenic mutant gene and the classification for 2 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM) by using candidate genes methods.Methyls All members in the 2 Chinese families with CFEOM were collected and underwent for clinical data collection,including medical history,physical examination and 5-8 mL peripheral venous blood for DNA extraction.Exon 2,8,20,21 of KIF21A,exon 1,2,3 of PHOX2A/ARIX,exon 1,2,3,and 4 of TUBB2B and exon 1,2,3,4 of TUBB3 were selected and synthesized by PCR,and the amplified samples were purified for sequences analysis by Chromas2.3 and DNAman7.0 software.Results There were 9 members developed CFEOM in family 1,with the typical CFEOM characteristics.The mutation site was located in KIF21A (exon 21),2860C ＞ T;and 4 patients in family 2 suffered this disease,and the typical CFEOM appearance features was in 3 patients.The mutation site was located in TBUU3 (exon 4),1249 G ＞ A.Conclusion The candidate genes methods can be used to identify the pathogenic genes of pedigrees with inherited diseases effectively.Family 1 belongs to CFEOM 1A type,which is the autosomal dominant inheritance with complete penetrance,and family 2 belongs to CFEOM 3A type,whivh is the autosomal dominant inheritance with incomplete penetrance.

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.

Scleral Perforation During Inferior Rectus Muscle Recession in Congenital Fibrosis of the Extraocular Muscles

PURPOSE: We report a case of a scleral perforation during inferior rectus recession in congenital fibrosis of extraocular muscles and the management of this perforation with a scleral patch graft. CASE SUMMARY: A 20-month-old female with bilateral ptosis, absence of elevation and a chin-up position was diagnosed with congenital fibrosis of extraocular muscles. Because severe esotropia in the downward gaze was observed, we first performed esotropia surgery. After 1 year, she underwent a bilateral ptosis correction. We decided to perform bilateral inferior rectus recession due to an abnormal head posture and the absence of elevation. Because the inferior rectus muscles were extremely tight and adhered to the sclera, hooking and isolating these muscles during surgery was difficult. After muscle suture placement, a portion of the sclera that contacted the left inferior rectus was chipped off as this muscle was disinserted with blunt Westcott scissors. A scleral perforation was observed, thus, we placed a scleral patch graft using the donor sclera and finished the bilateral inferior rectus recession. No abnormal findings for the vitreous or retina were detected. At 8 months after surgery, the patient exhibited exotropia of 12 prism diopters in her primary gaze. Her abnormal head posture nearly disappeared. CONCLUSIONS: Careful isolation and disinsertion of the muscle from the globe is necessary in the treatment of patients who are expected to exhibit severe adhesions between the muscle and sclera, such as patients with congenital fibrosis of extraocular muscles.

MRI demonstrates abnormalities of motor nerves and extraocular muscles in congenital fibrosis syndrome due to mutations in KIF21 A / 国际眼科杂志(Guoji Yanke Zazhi)

AIM:To observe the structural basis of ocular motility abnormalities in patients with congenital fibrosis of the extraocular muscles type Ⅰ ( CFEOM Ⅰ) due to missense mutations in the developmental kinesin KIF21A using high - resolution magnetic resonance imaging ( MRI) . METHODS: Totally 11 affected individuals reported KIF21A mutations were correlated with MRI studies demonstrating extraocular muscles ( EOMs ) size, location, contractility, and innervation. EOMs and the motor nerve in the orbits were imaged with T1 weighted in a triplanar scan using a dual-phased coils with 2. 0mm thick. Motor nerves were imaged at the brainstem using head coils and 3D-FIESTA with 0. 6-mm thick. RESULTS: Patients with CFEOM Ⅰ exhibited different degrees of hypoplasia of oculomotor nerve, the abducens nerve and the trochlear nerve were also affected, of which 8 cases of orbital section could see the signal of abnormal nerve dominated by oculomotor nerve to lateral rectus. The both sides of six EOMS in all patients exhibited variable atrophy and abnormal bright internal signal on T1 imaging, particularly severe for the superior rectus and levator muscles. CONCLUSION: High - resolution MRI can directly demonstrate pathology of motor nerves,affected EOMs, and ‘Pulley' hypoplasia caused by CFEOM Ⅰ due to mutations in KIF21A,and these findings suggest that the neuronal hypoplasia is the etiological factor of CFEOM.

Lower Eyelid Epiblepharon Associated with Lower Eyelid Retraction

PURPOSE: To describe a series of patients with lower eyelid epiblepharon associated with lower eyelid retraction. METHODS: We retrospectively reviewed the medical records of patients who underwent surgery for lower eyelid retraction, epiblepharon, or thyroid-associated ophthalmopathy (TAO) between October 1999 and March 2007. Patients with both lower eyelid retraction and epiblepharon on preoperative examination were included in this study. RESULTS: Twenty-seven eyelids of 20 patients with both lower eyelid retraction and epiblepharon were enrolled. The underlying causes of lower eyelid retraction included congenital retraction (seven eyelids), congenital fibrosis of the extraocular muscles (CFEOM; seven eyelids), TAO (seven eyelids), post-operative cicatricial retraction (five eyelids), and facial nerve palsy (one eyelid). Eight of 27 eyelids were successfully corrected after the repair of retraction without the repair of epiblepharon, regardless of the cause of lower eyelid retraction. Another four eyelids with epiblepharon associated with TAO resolved after only orbital decompression. Cilia-everting sutures were additionally applied for epiblepharon in another 14 eyelids, 12 of which did not require the excision of a skin fold or the orbicularis muscles. Only one eyelid with mild retraction and epiblepharon underwent simple epiblepharon repair. Recurrence of retraction or epiblepharon developed in three eyelids during follow-up. CONCLUSIONS: In cases with both lower eyelid retraction and epiblepharon, the retraction should be repaired first, and then the epiblepharon can be corrected selectively according to the severity of the case.

A Case of General Congenital Fibrosis Syndrome With A-pattern Strabismus

PURPOSE: To report a case of general congenital fibrosis syndrome with A-pattern strabismus, bilateral ptosis and hypotropia. CASE SUMMARY: A six-year-old girl was presented with severe bilateral ptosis and esodeviation of the left eye since birth. No levator action was presented and her chin was elevated at an angle of 25 degrees. In both eyes, an abduction defect was observed, and no vertical movement was presented. There was a left esotropia of 20 prism diopters (PD) and bilateral hypotropia of 35PD. There was an A-pattern strabismus that presents convergence movements during attempts to look upward, and orthotropia during attempts to look downward. Diagnosed as general congenital fibrosis syndrome with A-pattern esotropia, bilateral ptosis and hypotropia, bilateral inferior rectus muscle recessions were performed. After the operation, chin elevation and hypotropia in both eyes were corrected and exodeviation increased. Thus, orthotropia was observed in the primary position, and an A-pattern strabismus occurred with an exotropia of 15PD on the downgaze. CONCLUSIONS: A congenital fibrosis syndrome with an A-pattern strabismus was reported for the first time by the authors. On decisions concerningsurgical amounts of horizontal deviation, exodeviation should be considered to increase after bilateral inferior rectus muscle recessions.

A Case of General Congenital Fibrosis Syndrome With A-pattern Strabismus

PURPOSE: To report a case of general congenital fibrosis syndrome with A-pattern strabismus, bilateral ptosis and hypotropia. CASE SUMMARY: A six-year-old girl was presented with severe bilateral ptosis and esodeviation of the left eye since birth. No levator action was presented and her chin was elevated at an angle of 25 degrees. In both eyes, an abduction defect was observed, and no vertical movement was presented. There was a left esotropia of 20 prism diopters (PD) and bilateral hypotropia of 35PD. There was an A-pattern strabismus that presents convergence movements during attempts to look upward, and orthotropia during attempts to look downward. Diagnosed as general congenital fibrosis syndrome with A-pattern esotropia, bilateral ptosis and hypotropia, bilateral inferior rectus muscle recessions were performed. After the operation, chin elevation and hypotropia in both eyes were corrected and exodeviation increased. Thus, orthotropia was observed in the primary position, and an A-pattern strabismus occurred with an exotropia of 15PD on the downgaze. CONCLUSIONS: A congenital fibrosis syndrome with an A-pattern strabismus was reported for the first time by the authors. On decisions concerningsurgical amounts of horizontal deviation, exodeviation should be considered to increase after bilateral inferior rectus muscle recessions.

A Case Report of the Congenital Fibrosis of Extraocular Muscles

PURPOSE: We report the clinical findings and surgical results of congenital fibrosis of extraocular muscles in a 5-year-old boy. METHODS: For a 5-year-old boy diagnosed with congenital fibrosis of extraocular muscles, we performed myectomy with disinsertion of both lateral rectus muscles and inferior rectus muscles and the conjunctival recession. We checked the position and motility of the eyeball before and after the operation, computerized tomography(CT) preoperatively, and the muscle biopsy postoperatively. RESULTS: In a 5-year-old boy complaining of blepharoptosis and ophthalmoplegia of both eyes from birth, and gaze limitation in all direction except abduction, atrophy of the extraocular muscles was found in CT. After myectomy with disinsertion of both lateral rectus muscles and inferior rectus muscles and conjunctival recession, the eyeball position improved but lower eyelid retraction occurred. The biopsy of the inferior rectus muscle confirmed the diagnosis of fibrosis of extraocular muscles. CONCLUSIONS: Congenital fibrosis of extraocular muscles shows ophthalmoplegia and blepharoptosis from birth. With clinical findings, extraocular muscle atrophy in CT is a useful finding in diagnosis. In treatment, extraocular muscle recession or disinsertion can be done but the treatment of postoperative lower lid retraction is required. Treatment of combined blepharoptosis can also be required.

Alterations of Sarcospan Gene in Congenital Fibrosis Syndrome

Congenital fibrosis of the extraocular muscles syndrome [CFEOMS] was genetically related to the region of chromosome 12[p11.2~q12] by linkage analysis. Recently the gene encoding sarcospan, one of transmembrane components of the dystrophinglycoprotein complex which falls within the genetic locus p11.2 of chromosome 12, was suggested to be related with CFEOMS. In this study, we analysed the genetic status[deletion and/or mutation] and the expression of sarcospan gene in 8 CFEOMS patients by using PCR[polymerase chain reaction], RT[reverse transcription]-PCR and PCR-SSCP[single strand conformational polymorphism] analysis. In PCR and PCRSSCP analysis, we could not detect any deletion or mutation in exon 3 of sarcospan, and in RT-PCR, 3 out of 4 CFEOMS samples were found to be slightly the increased expression of sarcospan gene compared to that of normal control. In conclusion, the genetical relationship between sarcospan gene and CFEOMS could not be related with deletional and mutational events of sarcospan gene. Even though, sacospan gene showed slightly the increased expressional patterns in CFEOMS samples, the relationship was difficult to explain because the cases were too small. Taken together, in order to confirm the relationship between sarcospan gene and CFEOMS, analysis of DNA and RNA from extraocular muscle were further needed.