双眼Duane眼球后退综合征31例的临床表现

目的观察３１例双眼Ｄｕａｎｅ眼球后退综合征（Ｄｕａｎｅ′ｓｒｅｔｒａｃｔｉｏｎｓｙｎｄｒｏｍｅ,ＤＲＳ）的临床表现,并对其鉴别诊断进行讨论。方法回顾性总结３１例双眼ＤＲＳ,并对其临床表现包括主诉、年龄、性别分布、疾病类型、第一眼位的眼位偏斜、外转及内转受限、内转时眼球后退、眼球急速上转及下转等进行了分析。结果３１例中,男性１４例,女性１７例;男女之比为０．８１。主诉包括眼球运动异常者１４例（４５％）,眼位偏斜者１０例（３２％）。本征的最常见类型为Ⅰ型２９例（９４％）,余２例为Ⅲ型（６％）,其临床表现包括企图内转时眼球后退伴同侧睑裂缩小,常有外转受限伴不同程度的内转受限及患眼内转时出现急速上转和／或下转。结论非典型患者内转时,眼球后退不明显,诊断ＤＲＳ时应与眼球运动异常疾病即外展神经麻痹、Ｍｏｅｂｉｕｓ综合征、先天性眼球运动不能和先天性或婴儿型内斜视相鉴别。     

Duane—minus (Duane sine retraction and Duane sine limitation): possible incomplete forms of Duane retraction syndrome

PurposeTo report ocular motility patterns that mimic, but do not fulfil the full clinical picture of Duane retraction syndrome (DRS) and to describe their clinical features and surgical management.MethodsThis is a retrospective case series study conducted on patients with DRS, mimicking non-comitant exotropia or esotropia and a face turn. Patients were included only if they lacked either globe retraction on adduction (sine retraction) or limitation of adduction or abduction on ductions (sine limitation not >0.5). Any overshoots or pattern strabismus was recorded. The ocular motility and alignment, details of surgery and their surgical outcomes were analysed.ResultsTwenty-one patients were identified; 13 in the sine retraction and 8 in the sine limitation group. All patients presented with a compensatory face turn. Overshoots were present in 10 (77%) and 7 patients (88%) in the sine retraction and sine limitation groups, respectively. Forced duction test showed tightness of the ipsilateral medial and the ipsilateral lateral rectus muscle in esotropic (n = 3) and exotropic patients (n = 18), respectively. Orthotropia was achieved in 82% of patients following ipsilateral medial or lateral rectus muscle recession.ConclusionsThere is a subset of patients who present with motility pattern similar to DRS but lack its complete diagnostic criteria. The presence of a face turn, overshoots on adduction or an ipsilateral tightness of the affected muscle should make one consider DRS sine retraction/sine limitation. The patients in our study responded well to lines of management similar to those of DRS.Subject terms: Ocular motility disorders, Eye abnormalities     

先天性颅神经异常支配性疾病及分子遗传学研究进展

先天性颅神经异常支配性疾病（congenital cranial dysinnervation disorders,CCDDs）为先天性、非进行性散发或家族性的颅神经肌肉疾病,其病因为一条或多条颅神经发育异常或完全缺如,从而引起原发或继发的对肌肉的异常支配。可表现为垂直眼球运动异常,水平眼球运动异常和面肌麻痹。以往这类疾病常被称为先天性纤维化综合征,最近的神经病理学、神经影像学和分子遗传学研究表明该类疾病是由于脑干颅神经核和（或）颅神经的发育异常引起。本文对不同类型CCDDs的临床及分子遗传学研究进展作一综述。     

Duane眼球后退综合征201例的临床特征

目的 总结２０１例Ｄｕａｎｅ眼球后退综合征的临床特征,并讨论其鉴别诊断。方法自１９７９－１９９６年回顾性地总结了２０１ 它的临床特征,包括主诉、性别分布、初诊年龄、侧向状态、表现类型、原在们的眼位偏斜、我不正、弱视、眼球后退、睑裂、改变、内转时眼球急速上转和下转、双眼单视及其随的眼部和百 部异常等予以分析。结果 ２０１例患者中,男９９例,女１０２例,男女之 １：１。６５．８８％ＤＲＳ左眼受累,以２     

Congenital cranial dysinnervation disorders

The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.     

Horizontal saccadic velocities in Duane's syndrome.

Horizontal ocular saccadic velocities were measured by electro-oculography in 33 patients with Duane's syndrome. In 28 patients with limited abduction associated with retraction on adduction (Type 1), abduction saccadic velocity was markedly reduced while adduct-on saccades were moderately slow. In three patients with exotropia and good abduction but associated limited adduction and retraction on adduction (Type 2), abduction velocity was good, while adduction saccadic speed was slow. In two patients with limited abduction and adduction with retraction on adduction (Type 3), abduction and adduction saccadic velocity was appreciably slow. Ocular electromyographic testing selected patients indicated that slow abduction saccades could be explained by absence of lateral rectus muscle recruitment, while slow adduction saccadic speed could be explained by paradoxical innervation of the lateral rectus muscle.     

Congenital adduction palsy and synergistic divergence: a clinical and electro-oculographic study.

We studied two patients with a peculiar congenital disturbance of ocular motility in which the horizontal movements of the left eye were always opposite the normal expected direction. The common features were: (1) congenital monocular adduction palsy and exotropia of the left eye; (2) simultaneous abduction of both eyes (divergence) on attempted dextroversion; (3) ocular torticollis, head turned to the right; and (4) inverse nystagmus of the left eye, occurring spontaneously as well as during optokinetic and vestibular testing. Clinical and electrooculographic findings suggested a close relationship to Duane's retraction syndrome and supported the concept that innervational mechanisms were responsible for the phenomenon.     

Duane's retraction syndrome: literature review.

BACKGROUND: Duane's retraction syndrome (DRS), also known as Stilling-Turk-Duane syndrome, is defined as a congenital miswiring of the lateral and medial recti muscles, resulting in an impaired ocular motility syndrome that includes palpebral fissure narrowing. The incidence of DRS is approximately 1% of the total cases of strabismus. Eighty percent of cases are unilateral and characterized by either limited abduction, limited adduction, or both. CASE REPORT: A 21-year-old man came to the clinic for a routine ocular examination without symptoms. A review of the history uncovered the presence of congenital, type I Duane's retraction syndrome. The examination demonstrated orthophoria in primary gaze, an abduction deficit O.S., and left globe retraction with palpebral fissure narrowing on right gaze O.S. MANAGEMENT: In most cases of DRS the eyes are straight in primary position and there is no amblyopia. Amblyopia, when present, is usually the result of anisometropia and not strabismus. Because our patient had no symptoms of diplopia in primary gaze (orthophoria) or in attempted right gaze (due to suppression of the left eye with abduction), prismatic and/or surgical management were not indicated, since the patient was free from binocular and cosmetic abnormalities. CONCLUSION: DRS is characterized by abnormal development of the cells in the abducens nucleus (CN VI), resulting in restricted or absent abduction and erroneous innervation of the lateral rectus by branches emanating from oculomotor nuclei (CN III). Management may include orthoptics, surgery, or monitoring.     

Adult-onset acquired oculomotor nerve paresis with cyclic spasms: relationship to ocular neuromyotonia

PURPOSE: To describe the characteristics and significance of acquired oculomotor nerve paresis with cyclic spasm. METHOD: Retrospective case series of two patients with a history of previous skull base irradiation for intracranial tumor who developed double vision and were found to have oculomotor nerve paresis with cyclic spasm. Both patients underwent a complete neuroophthalmologic assessment, including testing of eyelid position, pupillary size and reactivity, and ocular motility and alignment during both the paretic and spastic phases of the condition. RESULTS: Both patients developed unilateral lid retraction and ipsilateral esotropia with limitation of abduction during the spastic phase of the cycle, with ipsilateral ptosis, exotropia, and variable limitation of adduction during the paretic phase. The cycles were continuous and were not induced or altered by eccentric gaze. CONCLUSIONS: Cyclic oculomotor nerve paresis with spasms may occur years after irradiation of the skull base. This condition is different from the more common ocular motor disturbance that occurs in this setting-ocular neuromyotonia. However, in view of the similarity between these two disorders, it seems likely that they are caused by a similar peripheral mechanism.     

Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders

Background  

Mutations in the gene CHN1 have been described in autosomal dominant Duane’s retraction syndrome (DRS) and mutations have been shown to interfere with normal innervation of target eye muscles by oculomotor axons in chick embryos. We screened for CHN1 mutations in patients with various congenital ocular motility disorders.     

Duane眼球后退综合征的诊治要点

Duane眼球后退综合征（Duane retraction syndrome,DRS）的共同临床特征为眼球水平运动障碍,内转时睑裂缩小、伴眼球后退,外转时睑裂开大,部分患者眼球内转时伴有急速的上射或下射;其可分为Ⅰ、 Ⅱ、 Ⅲ型。DRS的发病机制既往认为是解剖结构异常所致,但目前多认为神经肌肉支配异常是其根本原因。因DRS患者临床表现各异,需对其特征性表现仔细观察方可做出正确诊断。同时,在治疗上,也需遵循一定的原则针对每例患者的特点设计出个性化的治疗方案。     

Analysis of the SALL4 Gene in Patients with Duane Retraction Syndrome in a South Indian Population

Duane retraction syndrome (DRS) is a congenital eye movement disorder characterized most typically by partial or complete failure of abduction and narrowing of palpebral fissure with globe retraction on adduction. Recently mutations of the SALL4 gene on chromosome 20 have been linked to DRS associated with radial forearm malformations (Okihiro syndrome). In this prospective, non-interventional study we screened for SALL4 mutations in 72 patients clinically diagnosed as having isolated DRS or DRS associated syndromes. All four exonic and the neighboring intronic regions of SALL4 gene were amplified by sixteen sets of primers using polymerase chain reaction and were subjected to bi-directional sequencing and BLAST analysis. No genetic variations were detected in the coding region and in the neighboring intronic regions of the SALL4 gene suggesting an alternative mechanism in the pathogenesis of these disorders in the South Indian population.     

The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of Disease

Abstract

In recent years, our understanding of the genetic foundations of incomitant strabismus has grown significantly. Much new understanding has been gleaned since the concept of congenital cranial dysinnervation disorders (CCDDs) was introduced in 2002, and the genetic basis of CCDDs continues to be elucidated. In this review, we aim to provide an update of the genetic and clinical presentation of these disorders. Disorders reviewed include Duane syndrome (DS), HOXA1 and HOXB1 syndromes, Moebius syndrome, congenital fibrosis of the extraocular muscles (CFEOM), and horizontal gaze palsy with progressive scoliosis (HGPPS).     

Unilateral paralysis of the levator muscles]

Double elevator palsy is rare clinical disorder of ocular motility characterised by a unilateral palsy of the superior rectus and inferior oblique with a resultant inability or reduced ability to elevate the affected eye on abduction as well as on adduction. The term double elevator palsy has been used to describe clinical cases that certainly do not have the features of the true paralysis. It is useful to distinguish between: true double elevator palsy characterised by hypotropia of the paretic eye in primary gaze, by a limitation of elevation in abduction and in adduction, by a negative forced duction test and by presence of Bell phenomenon; the clinical form in which prolonged hypotropia has produced a contracture of the ipsilateral antagonist; isolated inferior restriction combined with limitation of elevation and normal elevator muscle function. The clinical case reported is that of a patient suffering from a right double elevator paralysis, probably congenital, corresponding to Type 1 of White's classification.     

A Case of Pseudo-Duane's Retraction Syndrome With Old Medial Orbital Wall Fracture

We report a case of pseudo-Duane''s retraction syndrome with entrapment of the medial rectus muscle in an old medial orbital wall fracture presenting identical clinical symptoms as Duane''s retraction syndrome. A 15-year-old boy presented with persistent limited right eye movement since a young age. Examination showed marked limited abduction, mildly limited adduction, and globe retraction accompanied by narrowing of the palpebral fissure during attempted adduction in the right eye. He showed a right esotropia of 16 prism diopters and his head turned slightly to the right. A slight enophthalmos was noted in his right eye. A computed tomography scan demonstrated entrapment of the medial rectus muscle and surrounding tissues in an old medial orbital wall fracture. A forced duction test revealed a marked restriction of abduction in the right eye. A 5 mm recession of the right medial rectus muscle was performed. Postoperatively, the patient''s head turn and esotropia in the primary position were successfully corrected, but there was still some limitations to his ocular movement. The importance of several tests such as the forced duction test and an imaging study should be emphasized in making a diagnosis for limitation of eye movement.     

Amblyopia of the fellow eye in assumed unilateral congenital fibrosis syndrome

BACKGROUND: Amblyopia of the ptotic eye in spite of head posturing and of the fellow eye in ptosis with motility disorders are well known. We emphasize the importance of exact ophthalmological and orthoptic examinations to avoid amblyopia in both ptosis and fellow eye, even in cases of mild ptosis, especially if they are combined with motility disorders. PATIENT: A 5 year-old girl presented to our outpatient clinic because of ptosis of the left eye and hypertropia of the right eye. Visual acuity of the right eye was 0.32 and of the left ptotic eye 1.0. Cycloplegic retinoscopy showed + 2.0 sphere in both eyes. Ocular motility showed a mild reduction of elevation of the left eye in ad- and abduction. This led to the diagnosis of congenital fibrosis syndrome of the inferior rectus muscle of the left eye. Due to the preferred fixation with the left ptotic eye and the consecutive deviation of the fellow eye amblyopia of the right eye had developed. Occlusion therapy of the left eye resulted in an improvement of visual acuity of the right eye to 0.9 and centralisation of fixation within one month. CONCLUSION: Even children with mild ptosis, especially in combination with motility disorders, require a complete ophthalmological and orthoptic examination to avoid amblyopia also of the fellow eye.     

Treatment of upshoot and downshoot in Duane syndrome by recession and -splitting of the lateral rectus muscle

BACKGROUND: Duane syndrome is characterized by abduction deficiency, narrowing of the palpebral fissure with retraction of globe on attempted adduction, and upshoot or downshoot, which can be the most prominent feature of the motility disorder. The upshoot and downshoot is believed to be caused by a tautness or leash effect from the lateral rectus muscle. The purpose of this study was to present the results of recession of the lateral rectus muscle with Y-splitting in the treatment of upshoot and downshoot in Duane syndrome. METHODS: Ten patients with Duane syndrome underwent surgery for severe upshoot or downshoot. Lateral rectus muscles recession from 5.0 to 9.0 mm and Y-splitting was accomplished in all patients. In 6 patients, the medial rectus muscles were recessed simultaneously from 5.0 to 6.0 mm to correct the associated marked globe retraction and ocular deviation. RESULTS: Mean age at the time of surgery was 9.9 +/- 6.9 years (range, 3 to 20). Median follow up was 6 months (range, 3 weeks to 3 years). After surgery, all patients showed a marked decrease in upshoot or downshoot as well as improvement in globe retraction and face turn, where present. CONCLUSIONS: Recession of lateral rectus muscle with Y-splitting is an extremely effective procedure in the treatment of significant upshoot and downshoot associated with globe retraction in Duane syndrome. When combined with simultaneous recession of the medial rectus muscle, it improves globe retraction and corrects ocular deviation.     

Ocular manifestations in Kabuki syndrome: the first report from Saudi Arabia

Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome in which ophthalmological examination for the early detection of ocular abnormalities is desired in order to prevent visual impairment. Case: Retrospective, interventional, case report of a 5-year-old female patient of Arabic origin with features of Kabuki syndrome. Observation: Patient had neurological deficit, psychomotor retardation, a peculiar face, including large prominent cup shaped ears, broad depressed nasal tip, and high arched palate, and malformed teeth. Her ocular features suggestive of Kabuki syndrome included left upper eyelid congenital ptosis, lagophthalmos, arched eyebrows with temporal sparing of hair, long horizontal palpebral fissures, lateral lower eyelid eversion and resultant epiphora. Other abnormalities included medial lower epicanthal folds, abduction deficit bilaterally, large esotropia, significant hyperopia, right corneal opacity, iris and chorioretinal coloboma. Patient required hyperopic correction and ptosis surgery, which improved her visual functioning. Conclusions: We report the first case of a Kabuki syndrome patient from Saudi Arabia and stress on the importance of ophthalmological examination in all patients with KS for the early detection of ocular anomalies in order to prevent visual impairment.     

A patient with de Morsier and Duane syndromes.

de Morsier syndrome, or septo-optic dysplasia, is a developmental malformation complex characterized by optic nerve hypoplasia, dysgenesis of the septum pellucidum, and hypothalamic-pituitary dysfunction. (1,2) In Duane retraction syndrome, there is absence of the sixth nerve nucleus with congenital retraction of the globe and narrowing of the lid fissure in adduction, frequent abduction deficiency, and variable limitation to adduction of the affected eye. (3) The purpose of this report is to present a patient with the uncommon and previously unreported concurrence of both of these congenital malformation complexes, presumably because of a common disturbance of neuronal development.     

Nicotinic Receptor Mutation in a Mildly Dysmorphic Girl with Duane Retraction Syndrome

Background: To evaluate possible monogenic and chromosomal anomalies in a patient with unilateral Duane retraction syndrome and modest dysmorphism.

Materials and Methods: Clinical evaluation, sequencing of candidate genes, and array comparative genomic hybridization (array CGH).

Results: The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. Parents were first cousins, but no other family member was similarly affected. No mutations were detected in the HOXA1. KIF21A. SALL4, TUBB3, and CHN1 genes. Array CGH revealed a 16?Kb de novo deletion at chromosome 8p11.2 that encompassed a portion of only one gene, the Cholinergic Receptor, Nicotinic, Beta-3 (CHRNB3, Neuronal). This gene encodes a protein that is involved in the nicotinic acetylcholine receptor on neurons. It interacts functionally with other genes that code components of the acetylcholine receptor.

Conclusions: This patient’s chromosomal abnormality affected only one gene that is highly expressed in the brainstem and brain, involved in neurotransmission, and could be related to her Duane retraction syndrome.