-
Ophthalmology Science 2024To investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane retraction syndrome (DRS).
PURPOSE
To investigate the types of strabismus surgeries performed and the reoperation rate in patients with Duane retraction syndrome (DRS).
DESIGN
Retrospective cohort analysis.
PARTICIPANTS
An insurance claims data set was used to identify patients diagnosed with DRS between 2007 and 2021.
METHODS
We recorded the type of strabismus surgery performed and the timing and frequency of reoperations. The hazard ratios (HRs) for reoperation were estimated according to the surgical methods using Cox regression analysis.
RESULTS
Of the 9435 patients diagnosed with DRS, 1023 (10.8%) underwent ≥ 1 strabismus operation. The median age at surgery was 5.0 years, and patients were followed for an average of 3.8 ± 3.0 years after their initial strabismus surgery. Most of the surgeries only involved horizontal muscle(s) (n = 734 [71.7%]). However, some patients underwent surgeries on vertical muscle(s) (n = 132 [12.9%]), vertical muscle(s) with transposition (n = 102 [10.0%]), and horizontal muscle with transposition (n = 51 [5.0%]). The estimated 5-year rate of reoperation was 18.2% (95% confidence interval [CI], 15.0%-22.2%). Compared with surgery on horizontal muscle(s) only, vertical muscle surgery (HR, 2.01; 95% CI, 1.30-3.11; = 0.002) and vertical muscle surgery coupled with transposition (HR, 1.79; 95% CI, 1.06-3.02; = 0.03) had an increased risk of reoperation.
CONCLUSIONS
Strabismus surgery on ≥ 1 horizontal muscles is the most common type of strabismus surgery performed on patients with DRS. Approximately 1 in 7 patients with DRS who had strabismus surgery underwent a reoperation. Patients who underwent vertical muscle surgery had a higher risk of undergoing a reoperation.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38827492
DOI: 10.1016/j.xops.2024.100479 -
Journal Francais D'ophtalmologie May 2024To evaluate refractive findings in patients with unilateral Duane's retraction syndrome (DRS).
PURPOSE
To evaluate refractive findings in patients with unilateral Duane's retraction syndrome (DRS).
METHODS
This retrospective study included 40 patients followed for unilateral DRS. Detailed ophthalmological examinations of the patients were performed. The spherical and cylindrical refractive error, spherical equivalent, and type of refractive error in the eyes with DRS and the fellow eyes were determined. The patients were divided into three subgroups according to their type of DRS. The refractive properties of the eyes with DRS were examined in subgroup analyses. Eye movement limitation was graded between +1 and +4 and compared according to the refractive error type.
RESULTS
The mean age of the patients was 16.8±12.6 (range, 1-60) years. Of the eyes with DRS, 11 (27.5%) were emmetropic, four (10%) were hyperopic, two (5%) were myopic, 11 (27.5%) were myopic astigmatic, and 12 (30.0%) were hyperopic astigmatic. There was no statistically significant difference between the eyes with DRS and fellow eyes in relation to the spherical or cylindrical refractive errors or spherical equivalent (P>0.05 for all). The refraction values for the patients with type 1, type 2 and type 3 DRS were similar between groups (P>0.05). No statistically significant difference was detected in the degree of eye movement limitation according to refractive status (P>0.05).
CONCLUSION
In patients with unilateral DRS, there was no significant difference between the affected eyes and the fellow eyes in terms of refractive error values or types. Refractive status did not significantly differ according to the degree of eye movement limitation. Therefore, although extraocular muscles are affected by DRS, there may not be any significant refractive changes.
PubMed: 38788253
DOI: 10.1016/j.jfo.2024.104214 -
Graefe's Archive For Clinical and... Mar 2024To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and...
PURPOSE
To investigate the alterations in extraocular muscles (EOMs) by magnetic resonance imaging (MRI) among patients diagnosed with Duane retraction yndrome (DRS) and congenital fibrosis of the extraocular muscles (CFEOM), who present with various cranial nerve anomalies in an attempt to enhance the clinical diagnostic process.
METHODS
A case-control study was conducted to evaluate 27 patients with DRS and 14 patients with CFEOM. All patients underwent MRI scans of the brainstem and orbital examination. Neurodevelopmental assessments were conducted through MRI, and maximum cross-sectional area and volumes of EOMs were obtained. Three types of models were constructed using machine learning decision tree algorithms based on EOMs to predict disease diagnosis, cranial nerve abnormalities, and clinical subtypes.
RESULTS
Patients with bilateral CN VI abnormalities had smaller volumes of LR, MR, and IR muscles compared to those with unilateral involvement (P < 0.05). Similarly, patients with CFEOM and unilateral third cranial nerve abnormalities had a smaller maximum cross-section of the affected eye's SR compared to the contralateral eye (P < 0.05). In patients with both CN III and CN VI abnormalities, the volume of SR was smaller than in patients with CN III abnormalities alone (P < 0.05). The prediction model using EOMs volume showed a diagnostic precision of 82.5% for clinical cases and 60.1% for predicting cranial nerve abnormalities. Nonetheless, the precision for identifying clinical subtypes was relatively modest, at only 41.7%.
CONCLUSION
The distinctive volumetric alterations in EOMs among individuals exhibiting distinct cranial nerve anomalies associated with DRS or CFEOM provide valuable diagnostic insights into to Congenital Cranial Neurodevelopmental Disorders (CCDDs). MRI analysis of EOMs should thus be regarded as a crucial diagnostic modality.
PubMed: 38530452
DOI: 10.1007/s00417-024-06454-5 -
Strabismus Mar 2024This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience...
PURPOSE
This study is to describe the special clinical and genotypic features of a Chinese family with variant types of Duane retraction syndrome and to present our experience on managing these cases.
METHODS
Four individuals from one family were reviewed by ophthalmologic examinations, in which two affected and two unaffected individuals were revealed. MRI scans were performed on the two patients. Relevant gene mutations were screened by the next-generation sequencing technology and confirmed by Sanger sequencing technology.
RESULTS
The six-year-old proband presented with special clinical features of severe horizontal gaze dysfunction, exotropia and mild scoliosis. His mother showed significantly limited binocular abductions, with retraction of eyeballs in adduction. From MRI scans, abducens nerves were not observed in both patients and the oculomotor nerve was slightly thin in the proband. The proband and his mother shared the same CHN1 gene mutation site (c. 62A>G; p.Y21C). Strabismus surgery was performed on the proband to correct the primary gaze exotropia.(NM_001822: exon3 or NM_001025201: exon4: c. 62A>G; p.Y21C).
CONCLUSIONS
A novel CHN1 gene mutation was revealed from a Chinese family with Duane retraction syndrome. Remarkably, the proband and his mother presented different clinical features of ocular motility disorder. Strabismus correction surgery and amblyopia training helped to improve the appearance and visual function of the proband.
Topics: Adult; Child; Female; Humans; Male; Asian People; Chimerin 1; China; DNA Mutational Analysis; Duane Retraction Syndrome; East Asian People; Exotropia; Magnetic Resonance Imaging; Mutation; Pedigree
PubMed: 38509018
DOI: 10.1080/09273972.2023.2299470 -
Journal of AAPOS : the Official... Apr 2024Duane retraction syndrome (DRS) is a rare congenital nonprogressive restrictive strabismus. The absence/hypoplasia of the abducens nerve and the aberrant innervation of...
Duane retraction syndrome (DRS) is a rare congenital nonprogressive restrictive strabismus. The absence/hypoplasia of the abducens nerve and the aberrant innervation of the lateral rectus muscle by the oculomotor nerve have been hypothesized as causes of DRS, although the phenomenon of globe retraction can also occur in the setting of mechanical factors, such as congenital abnormal orbital structures or orbital trauma. We present the cases of 2 DRS patients with absent abducens nerve and abnormal muscular bands connecting the superior rectus and inferior rectus muscles on the temporal side of the optic nerve.
Topics: Humans; Duane Retraction Syndrome; Oculomotor Muscles; Strabismus; Oculomotor Nerve; Eye Injuries
PubMed: 38417542
DOI: 10.1016/j.jaapos.2024.103855 -
Frontiers in Genetics 2024Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable...
Moebius Syndrome (MBS) is a rare congenital neurological disorder characterized by paralysis of facial nerves, impairment of ocular abduction and other variable abnormalities. MBS has been attributed to both environmental and genetic factors as potential causes. Until now only two genes, and have been identified to cause MBS. We present a 9-year-old male clinically diagnosed with MBS, presenting facial palsy, altered ocular mobility, microglossia, dental anomalies and congenital torticollis. Radiologically, he lacks both abducens nerves and shows altered symmetry of both facial and vestibulocochlear nerves. Whole-exome sequence identified a missense variant c.643G>A; p.Gly215Arg in , encoding the α2-chimaerin protein. The p.Gly215Arg variant is located in the C1 domain of CHN1 where other pathogenic gain of function variants have been reported. Bioinformatic analysis and molecular structural modelling predict a deleterious effect of the missense variant on the protein function. Our findings support that pathogenic variants in the gene may be responsible for different cranial congenital dysinnervation syndromes, including Moebius and Duane retraction syndromes. We propose to include in the genetic diagnoses of MBS.
PubMed: 38356699
DOI: 10.3389/fgene.2024.1291063 -
Journal of Pediatric Ophthalmology and... 2024Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The...
Restrictive strabismus is a known complication of orbitozygomatic craniotomy. However, a pseudo-Duane syndrome has not been described following this procedure. The authors describe a 58-year-old woman who after craniotomy developed incomitant left exotropia with an adduction deficit; the globe retracted and palpebral fissure narrowed with attempted ocular adduction. .
Topics: Female; Humans; Middle Aged; Duane Retraction Syndrome; Strabismus; Eyelids; Iatrogenic Disease
PubMed: 38306234
DOI: 10.3928/01913913-20231214-04 -
Taiwan Journal of Ophthalmology 2023Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on... (Review)
Review
Duane syndrome is one of the most common restrictive congenital strabismus characterized by variable horizontal duction deficits with globe retraction and shoots on attempted adduction and narrowing of the palpebral aperture. It is now listed as a congenital cranial dysinnervation disorder. The disease is usually unilateral with female preponderance. Basic etiopathogenesis involves dysinnervation of the lateral rectus (LR) due to aplastic/hypoplastic abducens nucleus with a secondary aberrant supply to the LR by the medial rectus (MR) subnucleus of the oculomotor nerve. Diagnosis of the disease is usually clinical. Due to the variable presentation of the disease, surgical management is a challenge and has to be individualized to achieve alignment in the primary gaze, reduction in globe retraction, upshoots and downshoots, and correction of any abnormal head posture. Differential recessions of the lateral and MR muscles are done to correct esotropia or exotropia in the primary gaze. For globe retraction and shoots, Y-split or periosteal fixation of the LR muscles is done depending on the severity.
PubMed: 38249504
DOI: 10.4103/tjo.TJO-D-23-00078 -
Journal of Optometry 2024To report the visual and refractive characteristics and the prevalence of amblyopia in patients with different types of Duane's Retraction Syndrome (DRS).
PURPOSE
To report the visual and refractive characteristics and the prevalence of amblyopia in patients with different types of Duane's Retraction Syndrome (DRS).
METHOD
This retrospective study was performed on hospital records of 582 DRS patients at Farabi Hospital, Iran, from 2012 to March 2022.
RESULTS
The mean age of patients was 19.4 ± 11.9 (range, 3-70) years [335 (57.6 %) females and 247 (42.4 %) males (P < .001)]. DRS type I, II, III, and IV were presented in 347 (59.6 %), 148 (25.4 %), 82 (14.1 %), and 5 (0.9 %) patients, respectively. There were 530 (91.1 %) patients with unilateral and 52 (8.9 %) with bilateral involvement. In the unilateral patients, the DRS eyes' corrected distance visual acuity (CDVA) and astigmatism were significantly worse than the Non-DRS Eyes (P < .001). The mean amount of all refractive and visual parameters in bilateral patients' right or left eyes was significantly lower than in unilateral patients' non-DRS eyes (all P < .05). Anisometropia was observed in 75(12.9 %) of the patients. Amblyopia was observed in 18.5 % (98 patients) and 36.5 % (19 patients) of unilateral and bilateral DRS patients, respectively (P < .001). In unilateral patients, amblyopia was found in 57 (16.4 %) patients with Type I, 22 (14.9 %) patients with Type II, 16 (19.5 %) patients with Type III, and 3 (60 %) patients with Type IV. Forty-four (37.6 %) of patients with amblyopia had anisometropia.
CONCLUSION
This large-scale study indicates that DRS types differ in terms of refractive error, visual acuity, and the prevalence of amblyopia and anisometropia. Clinicians should be aware of the clinical features associated with different types of DRS.
Topics: Humans; Amblyopia; Male; Female; Retrospective Studies; Adult; Visual Acuity; Child; Child, Preschool; Middle Aged; Young Adult; Adolescent; Aged; Iran; Duane Retraction Syndrome; Prevalence; Refraction, Ocular; Refractive Errors; Anisometropia
PubMed: 38215611
DOI: 10.1016/j.optom.2023.100508 -
Oman Journal of Ophthalmology 2023Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected...
Achondroplasia is an autosomal dominant congenital disorder of endochondral ossification, induced by abnormal activity of fibroblast growth factor receptor 3. Affected individuals have short stature and often present with neurological and skeletal complications. Most have normal intelligence. Ocular association with achondroplasia include simple microphthalmos, congenital-onset glaucoma with presumed Axenfeld-Rieger anomaly, telecanthus, exotropia, inferior oblique overaction, angle anomalies, Duane retraction syndrome, cone-rod dystrophy, fundus albipunctatus, chorioretinal coloboma, macular coloboma, keratoconus, and developmental cataract. A 6-year-old achondroplasia boy with developmental delay had a high axial length (high myopia) in both eyes. This child had a left eye subluxated cataractous lens, while the other eye showed mild lens changes. All achondroplasia patients should be routinely screened in detail for lens and other ophthalmological anomalies so that they can undergo timely intervention and management.
PubMed: 38059098
DOI: 10.4103/ojo.ojo_42_23