Vertical Retraction Syndrome Research Articles

Vertical Retraction Syndrome: Clinical Features And Surgical Outcomes

Vertical Retraction Syndrome: Clinical Features And Surgical Outcomes

Anomalous orbital structures resulting in vertical retraction syndrome

Vertical restraction syndrome is a rare, congenital eye vertical movement disorder characterized by the retraction of the globe and narrowing of the palpebral fissure during downward or upward gaze.

Bilateral familial vertical Duane Syndrome with synergistic convergence, aberrant trigeminal innervation, and facial hypoplasia

A 5-year-old girl presented with bilateral familial vertical Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial hypoplasia. Abnormal adducting downshoots on attempting abduction suggestive of a synergistic convergence were noted. Hypothesis suggests aberrant innervations or peripheral anatomic connections between inferior and medial recti.

Vertical retraction syndrome caused by anomalous orbital structures

To described the clinical feature and MRI imaging of six children with vertical retraction syndrome. Six children with unilateral vertical retraction syndrome between 15 months and 8 years of age, mean age was (5.01 ± 1.27) years old. Strabismus examination included diopter, prism diopters, eye movement examination, binocular vision and fundus examination. Imaging of the ocular motor nerves at the brainstem was performed in 0.8 mm thickness image planes using 3D-FIESTA sequence, the orbits were imaged with FSE T1, T2WI using surface coils, and within 2.0 mm thick planes. Four children showed hypertropia, characterized by limited depression, a light retraction of the globe during downward gaze and eyelid lag. The MRI imaging showed anomalous orbital structure in the superonasal quadrant that between medial rectus and superior rectus or adjacent to the superior rectus. Two children showed intermittent exotropia, characterized by limited elevation, retraction of the globe and narrowing of the palpebral fissure during upward gaze. The MRI imaging showed anomalous orbital structure was present in the inferotemporal quadrant, one originate in inferior rectus and another close to the lateral rectus. Anomalous orbital structures are a main cause of vertical retraction syndrome. The presence of specific unusual eye movement and MRI imaging may assist in diagnosis. When the eyelid lag was found since the early age, anomalous orbital structures were implied.

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

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. Altogether, 29 patients with different congenital ocular motility disorders and a positive family history of congenital ocular motility disturbances or strabismus or bilateral affection or accompanying congenital disorders were enrolled in this study. DNA samples of patients suffering from DRS (n = 5), Brown syndrome (n = 13), other congenital motility disorders of the oblique eye muscles (n = 6), double elevator palsy (n = 4), and vertical retraction syndrome (n = 1) were investigated by direct sequencing of all coding exons of CHN1. In the families of our index patients with DRS, other family members displayed DRS, see-saw nystagmus, infantile esotropia, microtropia, or Brown syndrome, respectively. In the families of our patients with cases of Brown syndrome, bilateral abduction deficiency, infantile esotropia, and unspecified strabismus occurred. The patients with congenital disorders of the oblique muscles and with congenital elevation deficiencies other than Brown syndrome had relatives with ptosis, infantile esotropia, DRS, congenital abduction deficiency, and unspecified forms of strabismus. Thus a considerable intrafamilial overlap between different types of congenital forms of motility disorders and strabismus does exist. No mutations were detected in the CHN1 gene in our patients. In addition to known polymorphisms, we identified four novel heterozygous single-nucleotide substitutions, one in the 5'UTR, two in intronic regions, and one in the coding region leading to a synonymous amino acid substitution. We found no evidence for a causative involvement of CHN1 mutations in congenital ocular motor anomalies different from autosomal dominant Duane's retraction syndrome and provide further evidence for genetic heterogeneity in familial forms of DRS.

Unilateral vertical retraction syndrome with orbital band

Vertical retraction is a special form of retraction syndrome. In the past, the cause of this retraction has been thought to be a limiting fibrous band at the level of the inferior rectus muscle rather than co-contraction. Here the authors present a girl with unilateral retraction in upgaze and report the magnetic resonance imaging findings associated with retraction and narrowing of the palpebral fissure.

Unilateral restrictive ophthalmoplegia and enophthalmos associated with an intraorbital tissue band

Fibrosis of the extraocular muscles can be congenital or acquired. Acquired causes include trauma, myositis, thyroid eye disease, infection, and metastases. Congenital fibrosis of the extraocular muscles (CFEOM) runs in families and is known to have a genetic basis. It has been classified by Brown, Hansen, and Harley et al into the five following types: general fibrosis syndrome; fibrosis of the inferior rectus (IR) with blepharoptosis; strabismus fixus; vertical retraction syndrome; and unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. In this report, a case of unilateral fibrosis with enophthalmos and blepharoptosis due to a fibrous band is described.

Phenotypic heterogeneity may occur in congenital fibrosis of the extraocular muscles

BACKGROUND/AIMSCongenital fibrosis of the extraocular muscles (CFEOM) is an autosomal dominant, non-progressive disorder characterised by congenital ptosis and external ophthalmoplegia. CFEOM has previously been divided into several clinical entities; general...

Atypical Vertical Retraction Syndrome: A Case Study

A case of unilateral retraction of the eyeball in downward gaze as well as downshoot with the retraction when an outward horizontal movement of the contralateral eye was attempted has been introduced. The case has an exotropia with inability to adduct involved eye. The face turned to the left to minimize diplopia in the primary position. During the retraction, the lid widened slightly. An analyses by electrooculography and electromyography suggested that there was an abnormal neural connection between the vertical recti of the involved eye and the contralateral lateral rectus muscle. Co-contraction of vertical recti and loss of the reciprocal innervation were seen at the involved eye. Surgical treatment for exotropia, and total transplantation of vertical recti to the insertion of the involved medial rectus resulted in a slight reduction of the exotropia with the face straight, but not in the retraction as well as adduction and elevation of the involved eye. Based on the results, a central mechanism to produce above abnormality was described.

Bilateral vertical retraction syndrome. A family study.

A vertical retraction syndrome was present in both eyes of two children of a sibship of five. Ocular motility was normal in the remainder of this family; however, incomplete situs inversus of the optic nerve-head was present in one of the children with the vertical retraction syndrome and in an otherwise normal brother. The clinical features of the vertical retraction syndrome are similar to Duane's syndrome although they affect different muscles. The results of the forced duction test indicate that structural rather than neurogenic anomalies are probably the cause of the vertical retraction syndrome in these cases.