Project description:PurposeWe evaluated patients with hypertropia compatible with a diagnosis of superior oblique (SO) palsy to ascertain whether the 3-step test (3ST) can distinguish SO atrophy characteristic of trochlear nerve pathology from masquerading conditions.DesignProspective cross-sectional study.MethodsIn an academic practice, we performed quasi-coronal plane, surface coil magnetic resonance imaging in 83 patients clinically diagnosed with SO palsy. We evaluated alignment, SO cross-sectional area, SO contractility, and rectus muscle pulley positions.ResultsA total of 57 patients with mean age 39 years (SD = 21 years) had unilateral SO palsy manifested by SO atrophy (22 congenital and 35 acquired). There was normal SO size in 26 patients with an average age of 39 years (SD =16 years) considered masquerades (8 congenital and 18 acquired). Maximum palsied SO cross-section averaged 9.5 ± 3.8 mm2, less than 18.4 ± 3.9 mm2 contralaterally (P < 10-24). In masquerades, maximum hypertropic SO cross-section was 20.7 ± 3.1 mm2, which was not different from the hypotropic SO or the contralesional muscle in SO palsy. Head tilt testing in masquerades was indistinguishable from SO palsy. In SO palsy, central hypertropia averaged 13.2 ± 9.4Δ, increasing to 21.1 ± 14.0Δ in ipsilateral tilt, and decreasing to 4.3 ± 5.3Δ in contralateral tilt. In masquerades, central hypertropia averaged 13.1 ± 8.7Δ, and was 17.7 ± 11.1Δ in ipsilateral and decreasing to 4.9 ± 5.1Δ in contralateral tilt. Upright hypertropia was larger at 17.7 ± 9.9Δ in congenital than 12.0 ± 8.4Δ in acquired SO palsy (P = 0025) but was indistinguishable from congenital masquerades. Contractile change in SO cross-section was bilaterally similar in masquerades. Relevant coordinates of rectus pulleys were similar bilaterally in masquerades.ConclusionsThe 3ST pattern characteristic of unilateral SO palsy may be mimicked in all respects by masquerades.
Project description:AIM:To identify ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy and to find the relation between the ARIX gene and congenital superior oblique muscle palsy. METHODS:The three exons of the ARIX gene were sequenced by genomic DNA amplification with polymerase chain reaction (PCR) and direct sequencing in 15 patients with superior oblique muscle palsy (13 with congenital and two with acquired palsy) and 54 normal individuals. PCR products cloned into plasmids were also sequenced. A family with father and a daughter each having congenital superior oblique muscle palsy was also involved in this study. RESULTS:Four patients with congenital superior oblique muscle palsy carried heterozygous nucleotide changes in the ARIX gene. One patient with the absence of the superior oblique muscle had T7C in the 5'-UTR of the exon 1 and C-44A in the promoter region, both of which were located on the same strand. Another unrelated patient with congenital superior oblique muscle palsy had C76G in the 5'-UTR of the exon 1 and C-9A in the promoter region on the same strand. G153A in the 5'-UTR of exon 1 was found in common in two affected members of a family with congenital superior oblique muscle palsy. This G153A in the 5'-UTR of exon 1 was also present in four unrelated normal individuals. No other heterozygous nucleotide changes were found in normal individuals. CONCLUSIONS:The nucleotide change (G153A) in the 5'-UTR of exon 1 co-segregated with congenital superior oblique muscle palsy in one family. Four other nucleotide changes in the exon 1 or the promoter region were found only in patients with congenital superior oblique muscle palsy. These nucleotide polymorphisms may be one of the risk factors for the development of congenital superior oblique muscle palsy.
Project description:ObjectivesTo evaluate the effect of inferior oblique (IO) myectomy on ocular torsion according to the absence of the trochlear nerve in unilateral congenital superior oblique palsy (UCSOP).MethodsWe retrospectively reviewed the clinical data of patients who had been diagnosed with UCSOP and underwent ipsilateral IO myectomy (n = 43). Patients were classified into the present and absent groups according to the absence of the trochlear nerve and superior oblique hypoplasia on magnetic resonance imaging (MRI). For quantitative analysis of ocular torsion, disc-fovea angles (DFA) were collected in both eyes using fundus photographs taken within three months before surgery and one month after surgery.ResultsDFA of the paretic eye did not differ according to the absence of the trochlear nerve (9.4±5.6° in the present group vs. 11.0±5.4° in the absent group, p = 0.508). However, the present group had a larger DFA in the non-paretic eye than the absent group (14.1±6.7° in the present group vs. 8.0±5.0° in the absent group, p = 0.003). The change of ocular torsion after IO myectomy in the paretic eye was -5.3±3.7° in the present group and -4.8±3.5° in the absent group, respectively (p = 0.801). In the non-paretic eye, the change in DFA was -1.5±3.0° in the present group, which was larger than that in the absent group (0.7±2.6°, p = 0.047). In the multivariate analysis, the change in DFA was correlated with only the preoperative DFA (standardized β = -0.617, p<0.001 in the paretic eye, and standardized β = -0.517, p<0.001 in the non-paretic eye).ConclusionsIn the paretic eye, there was no significant difference in the change of ocular torsion between both groups, whereas in the non-paretic eye, the present group had a larger change in DFA after IO myectomy than the absent group. However, in the multivariable analysis, the change in ocular torsion was significantly correlated with preoperative excyclotorsion but not with the presence of the trochlear nerve itself.
Project description:ImportanceBoth vertical rectus belly transposition (VRBT) and superior rectus transposition (SRT) can be performed simultaneously with ipsilateral medial rectus recession (MRc) and have been shown to be effective for chronic sixth nerve palsy. However, it is unclear whether VRBT is superior to SRT in correcting esotropia.ObjectiveTo compare the effectiveness of modified VRBT plus MRc (mVRBT-MRc) vs augmented SRT plus MRc (aSRT-MRc) in Chinese patients with chronic sixth nerve palsy.Design, setting, and participantsThis parallel-design, double-masked, single-center, randomized clinical trial was conducted from January 15, 2018, to May 24, 2021. The follow-up visits were scheduled at 1 month and 6 months. Eligible Chinese participants with unilateral chronic sixth nerve palsy were randomly assigned to receive either mVRBT-MRc (VRBT group) or aSRT-MRc (SRT group).InterventionsmVRBT-MRc or aSRT-MRc.Main outcomes and measuresChange of horizontal deviation in primary position from baseline to 6 months.ResultsOf the total 25 eligible participants, the mean (SD) age was 45.4 (12.6) years, with 10 male participants (40%) and 15 female participants (60%). Thirteen participants (52%) were randomly assigned to the VRBT group, and 12 (48%) were randomly assigned to the SRT group. At baseline, the mean (SD) horizontal deviation was 65.7 (10.8) prism diopters (Δ) in the VRBT group and 60.5Δ(14.1Δ) in the SRT group. Similar amounts of MRc were performed in both groups. At 6 months, the horizontal deviation changed from baseline by 66.3Δ in the VRBT group and by 51.5Δ in the SRT group. The adjusted group difference was 10.9Δ (95% CI, 5.3Δ-16.6Δ), favoring the VRBT group (P = .001). Four times as many participants corrected more than 60Δ with mVRBT-MRc compared with aSRT-MRc. The group difference of the improvement of abduction limitation was -0.2 (95% CI, -0.8 to 0.5; P = .64). Although there was a higher proportion of undercorrection in the SRT group (difference, 45%; 95% CI, 16%-75%; P = .01), no differences were identified for other suboptimal outcomes between groups.Conclusions and relevanceCompared with aSRT-MRc, mVRBT-MRc showed better effect in correcting esotropia with no differences detected for other suboptimal outcomes. mVRBT-MRc may be a promising alternative surgical procedure for chronic sixth nerve palsy, particularly for large esotropia of more than 60Δ, if these results are confirmed in larger, diverse cohorts with longer follow-up.Trial registrationChiCTR Identifier: ChiCTR-INR-17013705.
Project description:PurposeSuperior rectus transposition has been popularized for the treatment of abduction deficiencies. Potential complications include induced vertical deviation and torsion. A new procedure, the inferior rectus transposition (IRT), may be similarly beneficial for patients at risk for postoperative vertical deviation or incyclotropia. The purpose of this study is to describe the outcomes of patients undergoing IRT.DesignProspective, interventional case series.MethodsFive patients in an academic pediatric ophthalmology and strabismus practice with a complete lateral rectus palsy who underwent IRT were studied. Changes in anomalous head posture, ocular rotations, ocular alignment, and torsion preoperatively to postoperatively were compared.ResultsThe patients ranged in age from 19-89 years. There was a significant correction in the angle of esotropia (ET) from 39±17Δ (14-55Δ) to 12 ± 9.8Δ (0-22Δ) postoperatively (P = .02). Two of 5 patients had preoperative hypertropia of the affected eye (1.4 ± 2.2Δ; range, 2-5Δ). One of those had no vertical deviation postoperatively and 1 patient resulted in 2Δ hypotropia. One patient without vertical misalignment preoperatively developed a small postoperative vertical deviation. Torticollis significantly improved from 31.4 ± 11.6° to 5 ± 5.8° (P = .004). All patients improved abduction, with a mean of -4.4 ± 0.5 preoperatively to -3.4 ± 0.9 postoperatively (P = .07).ConclusionInitial postoperative follow-up in patients with abducens palsy undergoing IRT shows a significant improvement in ocular alignment and torticollis. In patients with preoperative hypertropia, IRT resulted in a downward shifting effect on the operated eye. IRT may be a beneficial procedure for patients with preoperative hypertropia or intorsion requiring transposition procedures. Future studies with larger populations and longer durations of follow-up will be required before this procedure can be recommended.
Project description:PurposeAlthough the Parks-Bielschowsky three-step test is the cornerstone of cyclovertical strabismus diagnosis, it has not been validated against an external benchmark. We evaluated the test's sensitivity in clinical diagnosis of superior oblique palsy in patients with unequivocal magnetic resonance imaging (MRI) evidence of superior oblique atrophy.MethodsA total of 73 strabismic patients were selected from a prospective MRI study because they exhibited superior oblique atrophy indicative of superior oblique denervation and thus confirmatory of superior oblique palsy. Of these, 50 patients who had no confounding factors were included for detailed study. Ocular motility data were evaluated to determine sensitivity of single and combined clinical findings in diagnosis of superior oblique palsy.ResultsMaximum mean ipsilesional superior oblique cross section was reduced to 9.6 ± 0.6 mm(2) (mean ± standard error) in superior oblique palsy, representing 52% of the 18.5 ± 0.6 mm(2) contralesional superior oblique maximum cross section and 52% of the 18.4 ± 0.4 mm(2) control maximum superior oblique cross section (P < 0.001). Of the 50 patients, 35 (70%) with superior oblique atrophy fulfilled the entire three-step test. In 14 (28%) patients two steps were fulfilled; in 1 patient (2%), only one step. Affected superior oblique cross section was similar in orbits that fulfilled the three-step test (9.8 ± 0.9 mm(2)) and those that did not (9.1 ± 0.7 mm(2); P = 0.58).ConclusionsThe complete three-step test fails to detect 30% of cases of superior oblique atrophy. Often only two of three steps are positive in superior oblique palsy.
Project description:PurposeTo present the results of bilateral superior rectus transposition with medial rectus recession in a case of chronic bilateral sixth nerve palsy.ObservationBilateral superior rectus transposition with medial rectus recession resulted in full correction of esotropia with resolution of horizontal diplopia, improvement in abduction, and regain of stereoacuity in our case. There was minimal limitation of adduction, with no abnormal vertical or torsional changes.Conclusion and importanceBilateral superior rectus transposition with medial rectus recession appears to be a useful procedure for surgical treatment of bilateral sixth nerve palsy with minimal side effects. Given its potential for reduced risk of anterior segment ischemia (ASI), it may have especially good value in the select group of patients at risk for ASI. Studies with larger sample size and longer follow up are needed to further evaluate this procedure and elucidate the variables in surgical technique for superior rectus transposition.
Project description:BackgroundSuperior rectus muscle transposition (SRT) is one of the proposed transposition techniques in the management of defective ocular abduction secondary to chronic sixth nerve palsy and esotropic Duane retraction syndrome (Eso-DRS). The aim of the current study is to report the outcomes of augmented SRT in treatment of Eso-DRS and chronic sixth nerve palsy.Methodsa retrospective review of medical records of patients with Eso-DRS and complete chronic sixth nerve palsy who were treated by augmented full tendon SRT combined with medial rectus recession (MRc) when intraoperative forced duction test yielded a significant contracture. Effect on primary position esotropia (ET), abnormal head posture (AHP), limitation of ocular ductions as well as complications were reported and analyzed.Resultsa total of 21 patients were identified: 10 patients with 6th nerve palsy and 11 patients with Eso-DRS. In both groups, SRT was combined with ipsilateral MRc in 18 cases. ET, AHP and limited abduction were improved by means of 33.8PD, 26.5°, and 2.6 units in 6th nerve palsy group and by 31.1PD, 28.6°, and 2 units in Eso-DRS group respectively. Surgical success which was defined as within 10 PD of horizontal orthotropia and within 4 PD of vertical orthotropia was achieved in 15 cases (71.4%). Significant induced hypertropia of more than 4 PD was reported in 3 patients (30%) and in 2 patients (18%) in both groups, respectively.Conclusionaugmented SRT with or without MRc is an effective tool for management of ET, AHP and limited abduction secondary to sixth nerve palsy and Eso-DRS. However, this form of augmented superior rectus muscle transposition could result in high rates of induced vertical deviation.
Project description:PurposeTo report a series of cases, who developed consecutive exodeviation after vertical muscle transposition (VRT) performed for sixth nerve palsy, describe their management and analyse their outcome.DesignRetrospective case series.MethodsThis is an institutional study on patients who developed consecutive exotropia following VRT for sixth nerve palsy in two different centres. The age, gender, cause, and time to surgery were reviewed. Ductions, versions and angles of misalignment were analysed. In those who developed an exotropia >10 PD after surgery, a second surgery was performed. The time to the second surgery, intra-operative findings, surgical procedure and outcome were studied.ResultsA total of 164 cases of VRT for sixth nerve palsy were identified. Nine patients developed consecutive exotropia >10 PD (5.5%). There were no significant differences in the characteristics of those who developed overcorrection compared to those who did not. Five patients had full-tendon muscle transposition, three patients had Hummelsheim procedure and one patient had Jensen procedure. The average angle of consecutive exotropia was 26 ± 9 Δ (range 10-40 Δ). After the second surgery, angle of exotropia decreased to 21 ± 15 PD. Seven patients still had residual exotropia ≥10Δ and the exotropia was corrected in the remaining two patients. The time to second surgery in those two patients was much shorter than the other seven patients.ConclusionsPatients who undergo VRT should be followed up in the early post-operative period and revisiting the transposition should be done immediately in case of consecutive exotropia to avoid permanent overcorrection.
Project description:Idiopathic superior oblique muscle palsy is a major type of paralytic, non-comitant strabismus and presents vertical and cyclo-torsional deviation of one eye against the other eye, with a large vertical fusion range and abnormal head posture such as head tilt. Genetic background is considered to play a role in its development, as patients with idiopathic superior oblique muscle palsy have varying degrees of muscle hypoplasia and, rarely, the complete absence of the muscle, that is, aplasia. In this study, whole genome sequencing was performed, and single nucleotide variations and short insertions/deletions (SNVs/InDels) were annotated in two patients each in three small families (six patients in total) with idiopathic superior oblique muscle palsy, in addition to three normal individuals in one family. At first, linkage analysis was carried out in the three families and SNVs/InDels in chromosomal loci with negative LOD scores were excluded. Next, SNVs/InDels shared by the six patients, but not by the three normal individuals, were chosen. SNVs/InDels were further narrowed down by choosing low-frequency (<1%) or non-registered SNVs/InDels in four databases for the Japanese population, and then by choosing SNVs/InDels with functional influence, leading to one candidate gene, SSTR5-AS1 in chromosome 16. The six patients were heterozygous for 13-nucleotide deletion in SSTR5-AS1, except for one homozygous patient, while the three normal individuals were wild type. Targeted polymerase chain reaction (PCR) and direct sequencing of PCR products confirmed the 13-nucleotide deletion in SSTR5-AS1. In the face of newly-registered SSTR5-AS1 13-nucleotide deletion at a higher frequency in a latest released database for the Japanese population, the skipping of low-frequency and non-registration sorting still resulted in only 13 candidate genes including SSTR5-AS1 as common variants. The skipping of linkage analysis also led to the same set of 13 candidate genes. Different testing strategies that consisted of linkage analysis and simple unintentional bioinformatics could reach candidate genes in three small families with idiopathic superior oblique muscle palsy.