[Surgical treatment for correcting abnormal complicated head posture in nystagmus].

OBJECTIVE: To demonstrate the surgical choices for patients with complicated head posture associated with nystagmus. METHODS: It was a retrospective clinical study. Thirty-eight cases of congenital nystagmus with abnormal head posture in all three axes without strabismus were retrospectively analyzed. Twenty-nine(76.32%) cases whose dominant head posture were with face turn, 3 cases (7.89%) with chin up or down , respectively, were performed horizontal null zone shift as well as vertical null zone transposition; 2 cases (5.26%) with head tilt as the dominant position were underwent one tendon width transposition of all four vertical muscles;4 cases (10.53%)basically with the same degree for face turn and chip up or down, 2 cases were preferred with recess a group of horizontal yoke muscles and a group of vertical yoke muscles, the other 2 cases were combined with weaken both synergistic oblique muscles. SPSS 13.0 was used to analyse the difference of them. RESULTS: In 29 patients with horizontal head posture dominanted, 15 cases (68.18%) with 25 °-30 ° in horizontal head posture were corrected completely, 5°-15° was the residue for 7 cases (31.82%) with 35 °- 40 °degree in horizontal before surgery. 15 °-20° was residue for 3 cases larger than 40 ° before operation after modified Parks procedure. Anderson procedure can correct the angle of 15°-20° in 4 cases. The horizontal, vertical and torsional components of 22 cases whose predominant head posture were in horizontal with 25°-40° (3.18° ± 1.01°, 4.32° ± 1.14°, 4.55° ± 1.95°) were significantly reduced (t = 63.13, 3.57, 3.95;P < 0.01) after Parks procedure. Recession a group of vertical muscles 5mm or combined with oblique muscles in 3 patients could correct the 20° of vertical head posture, but the improvement of the other two axes was about 5°-10°.One tendon width transposition of all four vertical muscles in 2 cases could correct the 10° of head tilt and 10°-15°of chip up or down. Recession a group of horizontal and vertical muscles can correct 20°-25° of face turn and 20° of vertical head posture. CONCLUSIONS: When head turn with 25°-40°predominates over the vertical and torsional components, recess the horizontal muscles could be effective way in diminishing the abnormal head position on all three axes.When vertical or torsional head posture predominates for the complicated nystagmus, individual designs should be considered.When necessary, reoperations should be needed.

[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles].

OBJECTIVE: Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent. Genomic DNA was isolated from 5 ml peripheral blood samples according to the standard methods. Direct sequencing was performed after PCR amplification to genomic DNA for detection of KIF21A gene mutation. RESULTS: We identified heterozygous KIF21A mutations in 14 of sixteen patients. Twelve of them harbor the most common mutation, c.2860C > T (p.R954W) and two of them harbor the second most common mutation, c2861G > A(p.R954Q). The R954 mutations account for 87.5% (14/16), in which 75% (12/16) are R954W, 12.5% (2/16) are R954Q. CONCLUSION: The R954 mutations are also hotspots in Chinese patients with CFEOM.

[Comparison between photographic analysis and orthopedic goniometer of measurement of compensatory head posture].

OBJECTIVE: To evaluate the application of relative reference point photographic analysis method and goniometer method for head posture measurement, and compare the characteristics of the two methods. METHODS: Thirty patients from March 2011 to April 2011 and August to September with AHP in our hospital were recruited. The AHP were measured by photographic analysis and goniometer method respectively. The data were analyzed by SPSS software. RESULTS: The mean AHP was 15.62° ± 7.48° by photographic analysis measurement, 15.50° ± 6.99° by goniometer measurement. The Pearson's correlation coefficient (r = 0.955, P < 0.001, t = 0.286, P = 0.777). CONCLUSIONS: Relative reference point photographic analysis is a simple and effective way to measure AHP. The results measured by the two methods are highly consistent.

[Recession of both horizontal rectus muscles in Duane Retraction Syndrome with significant globe retraction].

OBJECTIVE: To evaluate the effect of Recession of both horizontal rectus muscles in Duane Retraction Syndrome with significant globe retraction. METHODS: Sixteen cases with DRS were summarized retrospectively. All patients had undergone surgery with recession of both horizontal rectus muscles. All clinical records, including sex, age, types of DRS, clinical features, surgical methods and clinical outcomes were analyzed. All patients were followed up for 3 months to 1 year. RESULTS: Fifteen cases had only monocular involvement while one had both eyes. The number of type I DRS was 3 cases, 1 case was esotropia while others were orthotropic in primary position. Type III DRS was observed 13 cases. Esotropia was seen in 6 cases (7 eyes), exotropia of 1 cases and orthotropic in primary position of 6 cases. 10 cases exhibited marked face turn. An upshoot or downshoot and variable severity of retraction of globe were found in all patients on attempt adduction of the affected eye. All patients had undergone surgery with recession of both horizontal rectus muscles. The medical rectus muscles were recessed from 5 mm to 7 mm and lateral rectus muscles 3 mm to 9 mm simultaneously, which was based on the amount of primary position deviation. Among these 2 cases were combined with Y-splitting of lateral rectus muscle. After surgery, all patients were orthotropic in primary position. Their symptom of unacceptable abnormal head position, significant globe retraction, noticeable narrowing of the palpebral fissure and significant upshoot or downshoot were ameliorated or disappeared. Especially the recession of lateral rectus muscle in addition to Y-splitting combining with the simultaneous medial rectus recession resulted in further amelioration of globe retraction in addition to upshoot and downshoot. CONCLUSION: Recession of both horizontal rectus muscles is effective in the treatment of significant globe retraction in Duane syndrome. Type III DRS with significant globe retraction but has no marked deviation and face turn can adopt this method to ameliorate their aspect. The method of lateral rectus muscle in addition to Y-splitting plays an important role in the treatment of upshoot and downshoot.

[A clinical analysis of 40 cases with congenital fibrosis of extraocular muscles].

OBJECTIVE: To analyse the clinical manifestations and the effects of surgical management on Congenital fibrosis of extraocular muscles (CFEOM). METHODS: Forty cases with CFEOM were retrospectively summarized. The follows were recorded and analysed, including sex, surgical age, visual acuity, refractive condition, phenotype, the diopter, the complications of eye and other position of the body, familial history, surgical methods. RESULTS: In the 60 eyes having refractive record, 7 eyes were simple hyperopia (11.67%), 2 eyes were simple myopia (3.33%); 51 eyes is astigmatism (85.00%); Amblyopia were 94.64%. 29 cases were CFEOM1 (72.5%); 10 cases were CFEOM 3 (25.0%); 1 case was CFEOM 2 (2.5%).10 cases had familial history (25%). The methods of surgery include recession, hang-back or tenotomy of the rectus muscles. If forced duction of the antagonist was negative, we can considered strengthening it. The clinical manifestations can be improved in 62 eyes After surgery. CONCLUSION: CFEOM is one of rare CCDDs, the astigmatism of refractive errors was among 51 eyes (85%), the incidence of amblyopia and CFEOM1 were high. The strabismic angles can be decreased in most patients through surgery.

[Retrospective study on clinical characteristics and surgical treatment of bilateral DRS].

OBJECTIVE: To investigate the clinical characteristics and surgical treatment of bilateral Duane retraction syndrome. METHODS: To collect 24 cases with bilateral DRS among 123 cases with DRS from hospital data during 2005.7 to 2009.11. Retrospective study included the clinical types, characteristics, plus diseases and surgical treatments. RESULTS: Fourteen male cases (58.3%) and 10 female cases (41.7%), aging 2 to 23-year-old. 16 cases were type I (66.7%), 1 case was type II (4.2%). 7 cases were type III (29.1%), in which patients with esotropia or exotropia were 3 and 4 cases respectively. 11 cases had up- or down-shoot pre-operation, which disappeared or improved post-operation in 8 cases (73%). 15 cases had abnormal head posture (AHP) and AHP disappeared or improved in all. Seven cases (29%) were associated with other congenital ocular or systemic anomalies. For horizontal deviation, unilateral medial or lateral rectus weakening procedures were performed in 13 cases and bilateral procedures in 11 cases. Post-operation, horizontal deviation was less than ± 10(Δ) in 21 patients (91%), 1 case was under-corrected and 2 cases were overcorrected. Simultaneously, the restriction of ocular motility and global retraction were improved in all the patients. Additional vertical or oblique muscle procedures were performed in 4 patients among 7 with vertical deviation more than 10(Δ) and up- or down-shoot. CONCLUSIONS: Bilateral DRS has more frequency in male, obviously horizontal deviation in primary position and more cases with vertical deviation which is related with up- or down-shoot phenomenon. The key point for successful surgery are forced duction test pre- and during operation to conform to relieve the mechanical factor and estimating abnormal innervation in horizontal and vertical rectus.

[The G990T mutation of the FRMD7 gene in a Chinese family with congenital idiopathic nystagmus].

OBJECTIVE: To study the mutation of FRMD7 gene in a Chinese family with congenital idiopathic nystagmus. METHODS: Forty-six individuals in the Chinese family with congenital idiopathic nystagmus, including 16 patients, 19 normal siblings and 11 spouses, were investigated under informed consent. Genomic DNA of all 46 members was isolated by standard protocol. The X-linked inherited pattern was ascertained by investigating the history of the family members and the clinical feature of each individual. The genome scan on X chromosome was performed after PCR amplification for microsatellite markers. LOD scores were calculated with Linkage 5.1. Direct DNA sequence analysis was carried out to find the gene mutation responsible for the disease. RESULTS: A maximum LOD score of 8.55 (theta=0) was obtained with polymorphic marker DXS1047. Haplotype construction of the family defined the disease interval between DXS8059 and DXS8033. Direct DNA sequence analysis revealed a heterozygous mutation of G990T in exon 9 of the FRMD7 gene in all patients, which was not present in unaffected family members. CONCLUSION: Congenital nystagmus is a clinically and genetically heterogeneous ocular movement disease. The mutation of G990T of the FRMD7 gene is the underlying molecular pathogenesis for this family with congenital nystagmus.

[A clinical analysis of sixty-seven cases with Duane's retraction syndrome].

OBJECTIVE: To analyze the clinical manifestations and the methods and effects of surgical management on Duane's Retraction Syndrome (DRS). METHODS: 67 cases with DRS were summarized retrospectively. The data were recorded and analysed, including sex, age, type, clinical features, surgical methods and the results. RESULTS: 63 cases had only monocular involvement. The number of Type I DRS was 47 cases (35 cases with esotropia, 12 cases with exotropia). 8 cases were Type II DRS with exotropia and 12 cases were Type III DRS (11 of them with exotropia). In 37 cases with upshoot and/or downshoot phenomenon, 31 of them were associated with exotropia. Ipsilateral medial rectus or lateral rectus recession, or bilateral medial rectus recession, improved the head compensation position, narrow palpebral fissure and globe retraction, with improvement or elimination of the deviation. After the operation, 60 cases (90%) showed horizontal tropia less than 10 prism diopters. Upshoot and/or downshoot were improved in all of the 37 cases after recessing medial or/and lateral recti, or simultaneously weakening of the inferior oblique muscle. CONCLUSION: Weakening medial and/or lateral recti can improve the clinical manifestations of DRS. Upshoot and downshoot are more common in eyes with exotropia. Lateral rectus recession is the main treatment method for relieving upshoot and downshoot in DRS with exotropia. We infer that the upshoot and downshoot phenomenon mainly related to the "bridle" effect. Recession of both horizontal recti can improve the serious clinical manifestations.

[Stereoacuity before and after surgery in patients with acquired excyclotorsion].

OBJECTIVE: To investigate the stereoacuity before and after superior oblique sagittal transposition in patients with acquired excyclotorsion. METHODS: 14 cases of acquired excyclotorsion who had complaints of forward and downward torsional diplopia were treated with superior oblique sagittal transposition. All patients were examined with Titmus test prior and after surgery. RESULTS: Surgical treatment greatly improved torsional diplopia. The stereoacuity improved gradually from 800 to 60 seconds of arc, peripheral to macular stereoacuity, and even foveal stereoacuity. CONCLUSION: The superior oblique sagittal transposition is an effective method for primary and down gaze acquired excyclotorsion. The operation not only alleviated diplopia in the practical fixation field, but also improved stereoacuity.

[Treatment of dissociated vertical deviation by shifting fixating eye].

OBJECTIVE: To investigate the results of using shifting fixation eye to manage monocular or asymmetrical binocular dissociated vertical deviation (DVD). METHODS: Twenty-three DVD children whose corrected vision was better than 0.5 in the amblyopic eye were studied. The goal of the shifting fixation eye was gained by decreasing the vision of the primary fixation eye to 2 or 3 lines (Snellen Visual Acuity) lower than that of the fellow fixation eye by occlusion or optical methods. The vision, alignment and retinal correspondence were evaluated before and after the treatment. RESULTS: After the treatment, in 10 patients, the vision of the primary fixation eye did not decrease significantly and the vision of the fellow eye increased 2 lines. In 19 patients, a cosmetic result was achieved; the primary fixation eye was shifted in 4 patients that had similar hepertropia in two eyes (