-
Indian Journal of Human Genetics Apr 2014We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952,...
We report a case of Wildervanck syndrome exhibiting Klippel-Feil anomaly, Duane's retraction syndrome and congenital deafness. Since the first case was reported in 1952, there have been more reports describing this triad either complete or incomplete. Our case has a complete triad of the syndrome along with frontal sinus hypoplasia. Our case is unique as the triad was associated with frontal sinus hypoplasia, which is very rare association.
PubMed: 25400350
DOI: 10.4103/0971-6866.142899 -
Oman Journal of Ophthalmology Sep 2014A 5-year-old girl presented with bilateral familial vertical Duane retraction syndrome with alternating esotropia, elevation deficit, Marcus gunn phenomenon, and facial...
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.
PubMed: 25378878
DOI: 10.4103/0974-620X.142596 -
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: 25360471
DOI: 10.4103/0301-4738.141070 -
Journal of AAPOS : the Official... Oct 2014Superior rectus transposition with or without medial rectus recession has been advocated for the treatment of abducens nerve palsy and esotropic Duane syndrome. Early...
BACKGROUND
Superior rectus transposition with or without medial rectus recession has been advocated for the treatment of abducens nerve palsy and esotropic Duane syndrome. Early reports have focused mainly on postoperative ocular alignment, but there is concern that superior rectus transposition may induce torsional misalignment. The purpose of this study was to evaluate torsional outcomes after superior rectus transposition surgery using prospective preoperative and postoperative torsional assessments.
METHODS
Prospective measurements were performed on all patients undergoing superior rectus transposition. Preverbal infants were assessed using fundus torsion evaluating the position of the fovea relative to the optic nerve; older children/adults underwent double Maddox rod (DMR) assessment of torsion.
RESULTS
A total of 11 subjects met the study inclusion criteria. The etiology of strabismus was an abducens nerve palsy (n = 7) or Duane syndrome (n = 4). For the subjects evaluated by fundus torsion (n = 4), there was no significant change in torsion for 3 (75%). For those subjects undergoing DMR (n = 7), there was a significant change in subjective torsion (4.7 ± 3.8°excyclotorsion vs 0.0° ± 5.0° excyclotorsion; P = 0.004). Esotropic deviation improved significantly for all subjects (39(Δ) ± 23(Δ) vs 6.5(Δ) ± 13(Δ); P = 0.001) and no significant mean vertical deviation postoperatively, although 1 patient had a clinically significant postoperative hypertropia measuring 14(Δ). Abduction also improved significantly (-4.2 ± 0.9 vs -2.8 ± 1, P = 0.0001).
CONCLUSIONS
In this patient series, superior rectus transposition with medial rectus recession did not have clinically significant induction of torsional diplopia as a result of the procedure.
Topics: Abducens Nerve Diseases; Adolescent; Aged; Child; Diagnostic Techniques, Ophthalmological; Diplopia; Duane Retraction Syndrome; Female; Humans; Infant; Male; Middle Aged; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Prospective Studies; Strabismus; Torsion Abnormality; Vision, Binocular; Visual Acuity
PubMed: 25266834
DOI: 10.1016/j.jaapos.2014.06.008 -
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 -
Genomics Sep 2014Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder that affects craniofacial development and ovarian function. FOXL2 is...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder that affects craniofacial development and ovarian function. FOXL2 is the only gene known to be responsible for BPES. The majority of BPES patients show intragenic mutations of FOXL2. Recently, a 7.4 kb sequence disruption, which was 283 kb upstream of FOXL2, was identified to independently contribute to the BPES phenotype. Several breakpoints nearing FOXL2 (0 Mb to 1.2 Mb, several of which were distant from the 7.4 kb sequence disruption) have been mapped or deduced through a traditional method in BPES patients with chromosome reciprocal translocation. In this study, two BPES families with chromosome reciprocal translocation were investigated. Intragenic mutations of FOXL2 or pathogenic copy number variations were excluded for the two BPES families. All of the four breakpoints were identified at a base-precise manner using Giemsa banding and whole genome low-coverage sequencing (WGLCS). In family 01, the breakpoints were found at chr1:95,609,998 and chr3:138,879, 114 (213,132 bp upstream of FOXL2). In family 02, the breakpoints were located at chr3:138,665,431 (intragenic disruptions of FOXL2) and chr20:56,924,609. Results indicate that the intragenic and extragenic interruptions of FOXL2 can be accurately and rapidly detected using WGLCS. In addition, both the 213 kb upstream and intragenic interruptions of FOXL2 can cause BPES phenotype.
Topics: Base Sequence; Blepharophimosis; Child, Preschool; Chromosome Breakpoints; Duane Retraction Syndrome; Female; Forkhead Box Protein L2; Forkhead Transcription Factors; Genome, Human; Humans; Male; Molecular Sequence Data; Pedigree; Translocation, Genetic; Twins, Monozygotic
PubMed: 25086333
DOI: 10.1016/j.ygeno.2014.07.010 -
Strabismus Jun 2014Vertical rectus transposition (VRT) is useful in abduction deficiencies. Posterior fixation sutures enhance the effect of VRT, but usually preclude the use of adjustable...
BACKGROUND
Vertical rectus transposition (VRT) is useful in abduction deficiencies. Posterior fixation sutures enhance the effect of VRT, but usually preclude the use of adjustable sutures. Augmentation of VRT by resection of the transposed muscles allows for an adjustable technique that can reduce induced vertical deviations and overcorrections.
METHODS
We retrospectively reviewed the records of all patients undergoing adjustable partial or full tendon VRT augmented by resection of the transposed muscles. Ciliary vessels were preserved in most of the patients by either splitting the transposed muscle or by dragging the transposed muscle without disrupting the muscle insertion.
RESULTS
Seven patients with abducens palsy and one with esotropic Duane syndrome were included. Both vertical rectus muscles were symmetrically resected by 3-5 mm. Preoperative central gaze esotropia of 30.6 ± 12.9Δ (range, 17-50Δ) decreased to 10.6 ± 8.8Δ (range, 0-25Δ) at the final visit (p = 0.003). Three patients required postoperative adjustment by recession of one of the transposed muscles due to an induced vertical deviation (mean 9.3Δ reduced to 0Δ), coupled with overcorrection (mean exotropia 11.3Δ reduced to 0 in two patients and exophoria 2Δ in one patient). At the final follow-up visit 3.8 ± 2.6 months postoperatively, one patient had a vertical deviation <4Δ, and none had overcorrection or anterior segment ischemia. Three patients required further surgery for recurrent esotropia.
CONCLUSIONS
Augmentation of VRT by resection of the transposed muscles can be performed with adjustable sutures and vessel-sparing technique. This allows for postoperative control of overcorrections and induced vertical deviations as well as less risk of anterior segment ischemia.
Topics: Adult; Aged; Duane Retraction Syndrome; Eye Movements; Female; Humans; Male; Middle Aged; Oculomotor Muscles; Postoperative Period; Retrospective Studies; Suture Techniques; Sutures
PubMed: 24738948
DOI: 10.3109/09273972.2014.904901 -
Indian Journal of Ophthalmology Feb 2014The purpose of this study is to evaluate the lateral rectus periosteal fixation and partial vertical rectus transpositioning (VRT) as treatment modalities to correct...
PURPOSE
The purpose of this study is to evaluate the lateral rectus periosteal fixation and partial vertical rectus transpositioning (VRT) as treatment modalities to correct exotropic Duane retraction syndrome (Exo-DRS).
MATERIALS AND METHODS
Prospective interventional case study of cases of Exo-DRS with limitation of adduction. A total of 13 patients were subdivided into two groups. Six patients underwent only lateral rectus periosteal fixation (group A) and seven patients also underwent partial VRT (group B). Assessment involved prism bar cover test, abduction and adduction range, extent of binocular single visual field and exophthalmometry. These tests were repeated at 1 week, 1 month and 3 months post-operatively and data analyzed.
RESULTS
The pre-operative mean values and ranges were 26.2 Δ (22-35) exotropia for group A and -21.3 Δ (14-30) exotropia for group B. The post-operative mean and range was +0.6 Δ esotropia (+20 to -8) for group A and 8 Δ (-2 to -20) exotropia for group B. Mean grade of limitation of abduction changed from -3.8 to -3.6 versus -3.6 to -2.8 and mean grade of limitation of adduction changed from -1.9 to -0.7 versus -1.5 to -0.5 in the groups A and B respectively. Mean binocular single visual field changed from 14.7° to 23.3° in group A and 11.8° to 26.4° in the group B respectively.
CONCLUSION
Lateral rectus periosteal fixation is an effective surgery to correct the exodeviation, anomalous head posture and improving adduction in Exo-DRS and partial VRT in addition is effective in improving abduction and binocular single visual fields.
Topics: Adolescent; Adult; Child; Duane Retraction Syndrome; Esotropia; Female; Follow-Up Studies; Humans; Male; Oculomotor Muscles; Ophthalmologic Surgical Procedures; Postoperative Period; Posture; Prospective Studies; Vision, Binocular; Visual Fields; Young Adult
PubMed: 24618490
DOI: 10.4103/0301-4738.121145 -
Clinical Genetics Aug 2014Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is... (Review)
Review
Eye misalignment, called strabismus, is amongst the most common phenotypes observed, occurring in up to 5% of individuals in a studied population. While misalignment is frequently observed in rare complex syndromes, the majority of strabismus cases are non-syndromic. Over the past decade, genes and pathways associated with syndromic forms of strabismus have emerged, but the genes contributing to non-syndromic strabismus remain elusive. Genetic testing for strabismus risk may allow for earlier diagnosis and treatment, as well as decreased frequency of surgery. We review human and model organism literature describing non-syndromic strabismus, including family, twin, linkage, and gene expression studies. Recent advances in the genetics of Duane retraction syndrome are considered, as relatives of those impacted show elevated familial rates of non-syndromic strabismus. As whole genome sequencing efforts are advancing for the discovery of the elusive strabismus genes, this overview is intended to support the interpretation of the new findings.
Topics: Animals; Disease Models, Animal; Duane Retraction Syndrome; Genetic Linkage; Humans; Risk Factors; Strabismus; Twin Studies as Topic
PubMed: 24579652
DOI: 10.1111/cge.12367 -
Clinical Case Reports Oct 2013A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing...
A patient with syndromic Duane retraction syndrome harbors a chromosome 811.1q13.2 inversion and 8p11.1-q12.3 marker chromosome containing subregions with differing mosaicism and allele frequencies. This case highlights the potential requirement for multiple genetic methods to gain insight into genotype–phenotype correlation, and ultimately into molecular mechanisms that underlie human disease.
PubMed: 24416505
DOI: 10.1002/ccr3.11