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Archives of Ophthalmology (Chicago,... Feb 2012To describe our results using augmented temporal superior rectus transposition (SRT) with adjustable medial rectus muscle recession (MRc) for treatment of Duane syndrome...
OBJECTIVE
To describe our results using augmented temporal superior rectus transposition (SRT) with adjustable medial rectus muscle recession (MRc) for treatment of Duane syndrome and sixth nerve palsy.
METHODS
Retrospective surgical case review of patients undergoing SRT. Preoperative and postoperative orthoptic measurements were recorded. Minimum follow-up was 6 weeks. Main outcome measures included the angle of esotropia in the primary position and the angle of head turn. Secondary outcomes included duction limitation, stereopsis, and new vertical deviations.
RESULTS
The review identified 17 patients: 10 with Duane syndrome and 7 with sixth nerve palsy. Combining SRT with MRc improved esotropia from 44 to 10 prism diopters (P < .001), reduced abduction limitation from -4.3 to -2.7 (P < .001), and improved compensatory head posture from 28° to 4° (P < .001). Stereopsis was recovered in 8 patients (P = .03). Three patients required a reoperation: 1 for overcorrection and 2 for undercorrection. A new primary position vertical deviation was observed in 2 patients with complex sixth nerve palsy and none with Duane syndrome. No patient described torsional diplopia.
CONCLUSIONS
Superior rectus transposition allows for the option of simultaneous MRc in patients with severe abduction imitation who require transposition surgery. Combining SRT and MRc improved esotropia, head position, abduction limitation, and stereopsis without inducing torsional diplopia.
Topics: Abducens Nerve Diseases; Adolescent; Child, Preschool; Depth Perception; Duane Retraction Syndrome; Esotropia; Eye Movements; Female; Follow-Up Studies; Head Movements; Humans; Infant; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Orthoptics; Reoperation; Retrospective Studies; Suture Techniques
PubMed: 22332212
DOI: 10.1001/archophthalmol.2011.384 -
Journal of Ophthalmic & Vision Research 2023To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn.
PURPOSE
To evaluate the frequency of facial asymmetry parameters in patients with head tilt versus those with head turn.
METHODS
This cross-sectional comparative study was performed on 155 cases, including 58 patients with congenital pure head turn due to Duane retraction syndrome (DRS), 33 patients with congenital pure head tilt due to upshoot in adduction or DRS, and 64 orthotropic subjects as the control group. The facial appearance was evaluated by computerized analysis of digital photographs of patients' faces. Relative facial size (the ratio of the distance between the external canthus and the corner of the lips of both face sides) and facial angle (the angular difference between a line that connects two external canthi and another line that connects the two corners of the lips) measured as quantitative facial parameters. Qualitative parameters were evaluated by the presence of one-sided face, cheek, and nostril compression; and columella deviation.
RESULTS
The facial asymmetry frequency in patients with head tilt, head turn, and orthotropic subjects was observed in 32 (97%), 50 (86.2%), and 22 (34.3%), respectively ( 0.001). In patients with head tilt and head turn, the mean facial angle was 1.78º 1.01º and 1.19º 0.84º, respectively ( = 0.004) and the mean relative facial size was 1.027 0.018 and 1.018 0.014, respectively ( = 0.018). The frequencies of one-sided nostril compression, cheek compression, face compression, and columella deviation in patients with pure head tilt were found in 19 (58%), 21 (64%), 19 (58%), and 19 (58%) patients, respectively, and in patients with pure head turn the frequencies were observed in 42 (72%), 37 (63%), 27 (47%), and 43 (74%), respectively. All quantitative and qualitative facial asymmetry parameters and facial asymmetry frequencies were significantly higher in head tilt and head turn patients as compared to the control group ( 0.001).
CONCLUSION
All facial asymmetry parameters in patients with head tilt and head turn were significantly higher than orthotropic subjects. The quantitative parameters such as relative facial size and facial angle were significantly higher in patients with pure head tilt than pure head turn. The results revealed that pure head tilt was associated with a higher prevalence of facial asymmetry than pure head turn.
PubMed: 37600919
DOI: 10.18502/jovr.v18i3.13778 -
BMC Ophthalmology Jan 2021Superior rectus muscle transposition (SRT) is one of the proposed transposition techniques in the management of defective ocular abduction secondary to chronic sixth...
BACKGROUND
Superior 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.
METHODS
a 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.
RESULTS
a 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.
CONCLUSION
augmented 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.
Topics: Abducens Nerve Diseases; Duane Retraction Syndrome; Esotropia; Eye Movements; Humans; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Retrospective Studies; Vision, Binocular
PubMed: 33472581
DOI: 10.1186/s12886-020-01779-1 -
Indian Journal of Ophthalmology Aug 2014
Topics: Accommodation, Ocular; Duane Retraction Syndrome; Esotropia; Eye Movements; Female; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Vision, Binocular
PubMed: 25230971
DOI: 10.4103/0301-4738.141069 -
Middle East African Journal of... 2015Managing a case of incomitant strabismus from nerve palsy or extraocular muscle loss is a major challenge. Among possible management options are globe or extraocular... (Review)
Review
Managing a case of incomitant strabismus from nerve palsy or extraocular muscle loss is a major challenge. Among possible management options are globe or extraocular muscle fixation to the orbital wall coupled with weakening or strengthening of the relevant antagonist. Extraocular muscle fixation to the orbital wall can also be used in cases of abnormal synkinesis to eliminate the abnormal eye movements of a misfiring extraocular muscle, which thereby allows the use of standard paralytic strabismus surgery techniques. This review article summarizes indications and techniques of periosteal fixation procedures for incomitant strabismus.
Topics: Duane Retraction Syndrome; Humans; Oculomotor Muscles; Oculomotor Nerve Diseases; Ophthalmologic Surgical Procedures; Ophthalmoplegia; Strabismus
PubMed: 26180470
DOI: 10.4103/0974-9233.159736 -
Indian Journal of Ophthalmology Jul 2022
Topics: Duane Retraction Syndrome; Eye Movements; Humans; Oculomotor Muscles
PubMed: 35791235
DOI: 10.4103/ijo.IJO_2821_21 -
Indian Journal of Ophthalmology May 2017A 12-year-old girl presented with esotropia and face turn since birth. Ocular motility examination showed restricted abduction associated with down shoot and retraction...
A 12-year-old girl presented with esotropia and face turn since birth. Ocular motility examination showed restricted abduction associated with down shoot and retraction on attempted abduction characteristic of inverse Duane's retraction syndrome. To the best of our knowledge, this is one of the very few reported cases of congenital inverse Duane's retraction syndrome.
Topics: Child; Diagnosis, Differential; Duane Retraction Syndrome; Eye Movements; Female; Humans; Oculomotor Muscles; Rare Diseases
PubMed: 28574005
DOI: 10.4103/ijo.IJO_72_14 -
European Journal of Human Genetics :... May 2012Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay...
Duane retraction syndrome (DRS) is a rare congenital strabismus condition with genetic heterogeneity. DRS associated with intellectual disability or developmental delay is observed in several genetic diseases: syndromes such as Goldenhar or Wildervanck syndrome and chromosomal anomalies such as 12q12 deletion. We report on the case of a patient with DRS, developmental delay and particular facial features (horizontal and flared eyebrows, long and smooth philtrum, thin upper lip, full lower lip and full cheeks). We identified a duplication of the long arm of chromosome 8 (8q12) with SNP-array. This is the third case of a patient with common clinical features and 8q12 duplication described in the literature. The minimal critical region is 1.2 Mb and encompasses four genes: CA8, RAB2, RLBP1L1 and CHD7. To our knowledge, no information is available in the literature regarding pathological effects caused by to overexpression of these genes. However, loss of function of the CHD7 gene leads to CHARGE syndrome, suggesting a possible role of the overexpression of this gene in the phenotype observed in 8q12 duplication patients. We have observed that patients with 8q12 duplication share a common recognizable phenotype characterized by DRS, developmental delay and facial features. Such data combined to the literature strongly suggest that this entity may define a novel syndrome. We hypothesize that CHD7 duplication is responsible for a part of the features observed in 8q12.2 duplication.
Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Duplication; Chromosomes, Human, Pair 8; Developmental Disabilities; Duane Retraction Syndrome; Humans; Male; Phenotype
PubMed: 22258531
DOI: 10.1038/ejhg.2011.243 -
Investigative Ophthalmology & Visual... Aug 2011Hyperactivating CHN1 mutations have been described in individuals with Duane retraction syndrome with or without vertical gaze abnormalities. This was a study of five...
PURPOSE
Hyperactivating CHN1 mutations have been described in individuals with Duane retraction syndrome with or without vertical gaze abnormalities. This was a study of five family members with distinctive ocular dysmotility patterns that co-segregated with a novel hyperactivating CHN1 mutation.
METHODS
Participating members of a family segregating pleomorphic incomitant strabismus underwent ophthalmic examinations, and several underwent high-resolution magnetic resonance imaging (MRI) of the orbits and brain stem. Participant DNA was extracted and amplified for haplotype analysis encompassing the CHN1 region on chromosome 2q31.1, and mutation analysis of the CHN1 gene, which encodes the Rac-GAP signaling protein α2-chimaerin. In vitro functional studies of the co-inherited mutation were performed, including a Rac-GTP activation assay, quantification of α2-chimaerin translocation, and co-immunoprecipitation.
RESULTS
All five clinically affected family members exhibited monocular or binocular supraduction deficits, three in the absence of Duane retraction syndrome. MRI in four affected individuals demonstrated small or absent abducens nerves in all four, small oculomotor nerve in one, and small optic nerves in three. Superior oblique muscle volume was also decreased in three of the individuals, supporting trochlear nerve hypoplasia. Strabismus segregated with the CHN1 locus and affected individuals harbored a c.443A>T CHN1 mutation (p.Y148F). In vitro, this novel mutation behaved similarly to previously reported CHN1 mutations underlying familial Duane syndrome, hyperactivating α2-chimaerin by enhancing its dimerization and membrane association and lowering total intracellular Rac-GTP.
CONCLUSIONS
Analysis of the current pedigree expands the phenotypic spectrum of hyperactivating CHN1 mutations to include vertical strabismus and supraduction deficits in the absence of Duane retraction syndrome.
Topics: Abducens Nerve; Amino Acid Substitution; Chimerin 1; Chromosomes, Human, Pair 2; Cranial Nerve Diseases; DNA Mutational Analysis; Female; Gene Expression Regulation; Genetic Linkage; Humans; Magnetic Resonance Imaging; Male; Mutation, Missense; Ophthalmic Nerve; Optic Nerve; Pedigree; Phenotype; Strabismus; rac GTP-Binding Proteins
PubMed: 21715346
DOI: 10.1167/iovs.11-7950 -
Indian Journal of Ophthalmology May 2015
Topics: Accommodation, Ocular; Duane Retraction Syndrome; Esotropia; Eye Movements; Female; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Vision, Binocular
PubMed: 26139819
DOI: 10.4103/0301-4738.159908