Two cases of Duane retraction syndrome with abnormal orbital structures.

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.

Modified Nishida's procedure for esotropia in Duane syndrome associated with Goldenhar syndrome.

Modified Nishida's procedure (no split, no tenotomy transposition) has been recently described as an effective surgery for monocular elevation deficiency and for traumatic rupture of the inferior rectus muscle. We report the modified Nishida's procedure combined with medial rectus muscle recession for the treatment of esotropia in unilateral Duane syndrome associated with Goldenhar syndrome. Following the surgery and over a 1-year follow-up period, the patient was orthophoric at distance and near, abduction improved, and the abnormal head position resolved.

Concomitant Unilateral Duane Retraction Syndrome and Contralateral Brown's Syndrome.

A 10-year-old boy was introduced with a chief complaint of ocular misalignment from birth. Ocular examination indicated right Brown and left Duane retraction syndrome in a non-familial pattern. We suspect that a teratogenic damage or genetic mutation may be responsible for this combination.

Clinical characteristics and surgical approach in Duane retraction syndrome: a study of 691 patients.

PURPOSE: To evaluate the clinical findings of different types of Duane retraction syndrome (DRS). STUDY DESIGN: Retrospective. METHODS: This study was performed on 691 patients with DRS who underwent surgery. Clinical examinations included laterality, abnormal head posture (AHP), corrected distance visual acuity (CDVA), refractive error, amblyopia, deviation, overshoots, and type of surgery. RESULTS: The mean age of patients with DRS was 16.7 ± 12.5 (range 1.0-73) years. The patients included 396 (57.3%) women and 295 (42.7%) men (P < 0.001). DRS type I, was observed in 429 (62.1%), II in 168 (24.3%), III in 88 (12.7%) and IV in 6 (0.9%) patients. Unilateral DRS was observed OS in 628 (90.9%) [471 (%78.9) and OD in 157 (21.1%) eyes (P < 0.001)]. O ther clinical findings were AHP (n = 522, 78.1%), overshoot (n = 236, 34.2%) and amblyopia (n = 118, 17.1%). The prevalence of overshoot in types I, II, and III was 17.5% (75/429), 60.7% (102/168) and 64.8% (57/88), respectively (P < 0.001). The prevalence of amblyopia was significantly lower in patients with AHP (80/522, 15.3%) compared to patients with normal head posture (38/169, 22.5%) (P = 0.023). The mean angle of deviation in the primary position (PP) at distance was 21.7 ± 11.5 △ for esotropic group and 17.8 ± 12.4 △ for exotropic group. Sixty-two (9.0%) patients required second surgery for resolving residual misalignment (1.1 surgeries for each patient). CONCLUSIONS: About two-thirds of DRS patients had AHP, one-third had overshoots, and one-sixth had amblyopia. The results show that different types of DRS are associated with different epidemiological and clinical characteristics.

Expanding the Phenotype of the FAM149B1-Related Ciliopathy and Identification of Three Neurogenetic Disorders in a Single Family.

Biallelic truncating FAM149B1 variants result in cilia dysfunction and have been reported in four infants with Joubert syndrome and orofaciodigital syndrome type VI, respectively. We report here on three adult siblings, 18 to 40 years of age, homozygous for the known FAM149B1 c.354_357delinsCACTC (p.Gln118Hisfs*20) variant. Detailed clinical examinations were performed including ocular and gait analyses, skeletal- and neuroimaging. All three patients presented with neurological and oculomotor symptoms since birth and mild skeletal dysplasia in infancy resulting in characteristic gait abnormalities. We document mild skeletal dysplasia, abnormal gait with increased hip rotation and increased external foot rotation, ataxia, variable polydactyly, ocular Duane syndrome, progressive ophthalmoplegia, nystagmus, situs inversus of the retinal vessels, olfactory bulb aplasia, and corpus callosal dysgenesis as novel features in FAM149B1-ciliopathy. We show that intellectual disability is mild to moderate and retinal, renal and liver function is normal in these affected adults. Our study thus expands the FAM149B1-related Joubert syndrome to a mainly neurological and skeletal ciliopathy phenotype with predominant oculomotor dysfunction but otherwise stable outcome in adults. Diagnosis of FAM149B1-related disorder was impeded by segregation of multiple neurogenetic disorders in the same family, highlighting the importance of extended clinical and genetic studies in families with complex phenotypes.

Contralateral lateral rectus muscle recession in a patient with unilateral exotropic Duane retraction syndrome type II: A case report.

A fixation preference for the affected eye is uncommon in patients with unilateral Duane retraction syndrome (DRS), and surgery on the fellow eye is rarely advocated. We are presenting a case report of a 9-year-old boy with unilateral DRS type II in the left eye who received lateral rectus muscle recession in his right amblyopic eye. The patient was orthophoric and his face turn was gone 6 months postoperatively. Surgery on the fellow amblyopic eye is a good choice for unilateral DRS where the affected eye dominants the fixation, and the satisfactory outcome suggests that alignment in the primary position can correct the face turn effectively despite the muscle duction deficit in the affected eye and further extend the binocular single visual field.

A rare association of type 2 Duanes retraction syndrome with arthrogryposis multiplex congenita.

A 10-year-old boy presented with complaints of abnormal eye movements and face turn since early There was a limitation of adduction in LE with narrowing of palpebral fissure and downshoot characteristic of type 2 Duane Syndrome. He was a known case of Arthrogryposis multiplex congenita (AMC) and had undergone multiple orthopedic surgeries. The literature on Duane Retraction Syndrome (DRS) in AMC is limited. Here, we report in brief the association of DRS type 2 in AMC.

Eficacia y complicaciones de las transposiciones musculares en el síndrome de Duane con esotropía / Efficacy and complications of transposition surgery in Duane esotropia síndrome

OBJETIVO: Estudiar la eficacia a largo plazo y las complicaciones de varios tipos de transposición en el tratamiento del síndrome de Duane: la transposición muscular de rectos verticales total o parcial, la transposición sin desinserción muscular y la transposición del recto superior. MATERIAL Y MÉTODOS: Estudio retrospectivo de los pacientes diagnosticados de síndrome de Duane con esotropía operados con cualquier tipo de transposición muscular asociada o no al debilitamiento del recto medio con seguimiento mayor de 12 meses. Se consideró un buen resultado una desviación ≤ 10 dioptrías prismáticas (dp) en posición primaria de la mirada, tortícolis < 10° con mejoría de la abducción y sin diplopía. RESULTADOS: Un total de 7 casos fueron incluidos (6 mujeres, 6 unilaterales), con una edad media de 37,71 años. La esotropía inicial en posición primaria de la mirada de 28 ± 11,68dp disminuyó a 6 ± 4,62dp al final del seguimiento (p = 0,009). El tortícolis mejoró en 6, y la abducción mejoró un grado en todos (media: -3,14 a -2,14). En 4 casos apareció una desviación vertical ≤ 8dp. Ningún paciente tuvo diplopía final. El porcentaje de reintervenciones fue del 71,42%; solo un 28,57% obtuvo un buen resultado con una cirugía y ascendió a un 71,42% al final del seguimiento con cirugías adicionales. El tiempo de evolución medio fue de 52 ± 31,65 meses. CONCLUSIONES: Las transposiciones en el síndrome de Duane con signos clínicos moderados o severos han sido solo eficaces en una pequeña proporción de los casos. La mayoría requirió una segunda cirugía para corregir las complicaciones o las hipocorrecciones

OBJECTIVE: To study the long-term efficacy and the complications of several transposition techniques for the treatment of Duane syndrome. These included, full vertical rectus transposition, partial vertical rectus transposition, transposition without muscle disinsertion, and superior rectus transposition. MATERIAL AND METHODS: A retrospective study of the patients diagnosed with Duane syndrome, and who underwent any of the different transposition techniques associated or not to the medial rectus recession with a follow-up longer than 12 months. A good result was considered a final deviation ≤ 10 prism dioptres (pd) in primary position, anomalous head posture < 10°, and an improvement of the abduction without diplopia. RESULTS: Seven cases were included (6 women, 6 unilateral), and a mean age of 37.71 years. Pre-operative central gaze esotropia of 28 ± 11.68 pd decreased to 6 ± 4.62 pd at the final visit (P = .009). The anomalous head posture decreased in 6 patients, and the abduction improved one degree from -3.14 to -2.14 (mean). An induced vertical deviation ≤ 8pd was observed in 4 cases. None experienced diplopia at the final visit. The percentage of reoperations was 71.42%. Only 28.57% had a favourable outcome with a single surgery, which increased to 71.42% with further surgeries at the final follow-up. Mean evolution time was 52 ± 31.65 months. CONCLUSIONS: Vertical rectus transpositions in Duane syndrome with moderate or severe clinical signs have only been effective in a small percentage of the cases. Most of them required further surgeries to resolve the complications or the under-corrections

Superior Rectus Transposition With Medial Rectus Recession Versus Medial Rectus Recession in Esotropic Duane Retraction Syndrome.

PURPOSE: To compare the results of augmented superior rectus transposition (with or without medial rectus recession) with simple medial rectus recession in the treatment of patients with esotropic Duane retraction syndrome. METHODS: This was a prospective, randomized, and interventional comparative study of 20 patients with esotropic type 1 Duane retraction syndrome. Patients were randomly divided into two groups. In the first group (superior rectus transposition group), superior rectus transposition with or without medial rectus recession was performed. In the second group (non-superior rectus transposition group), unilateral medial rectus recession was performed. RESULTS: Each group included 10 patients. Esotropia improved from 20.4 prism diopters (PD) preoperatively to 0.6 PD postoperatively in the superior rectus transposition group and from 22.5 PD preoperatively to 0.9 PD postoperatively in the non-superior rectus transposition group. Face turn improved from 11.5° preoperatively to 0.5° postoperatively in the superior rectus transposition group and from 12° preoperatively to 1.5° postoperatively in the non-superior rectus transposition group. Abduction improved in the superior rectus transposition group from -3.9 preoperatively to -3.1 postoperatively and from -3.9 preoperatively to -3.6 postoperatively in the non-superior rectus transposition group. Vertical deviation developed in two cases in the superior rectus transposition group. CONCLUSIONS: Both superior rectus transposition and medial rectus recession are effective in the elimination of esotropia and face turn in patients with esotropic Duane retraction syndrome. Superior rectus transposition is more effective in improving abduction, but it can be complicated by vertical deviation. [J Pediatr Ophthalmol Strabismus. 2020;57(5):309-318.].

Surgical outcome of exotropic Duane syndrome.

Purpose: To evaluate the surgical outcome of exotropic Duane syndrome and the factors that can influence the outcome.Methods: A retrospective study was performed on patients who had surgery for exotropic Duane syndrome with a minimum follow-up of 3 months. The ocular motility, the angles of deviation, the presence of abnormal head turn or overshoots, the surgical procedures performed, and their outcome were analyzed.Results: Sixty-seven patients were identified (mean age, 11.3 years). In unilateral cases with exotropia <25 PD (n = 28), ipsilateral lateral rectus (LR) recession was performed in all cases, and orthophoria was achieved in 25 patients (89.3%). In unilateral cases with angle ≥25 PD, ipsilateral LR recession was performed in 13 patients, bilateral symmetrical LR recession in eight patients, and unilateral LR recession and medial rectus (MR) resection in seven patients. Sequential contralateral LR recession for undercorrection was performed in seven patients. The success rate was highest in those who had unilateral LR recession and MR resection (66.7%). An increase in face turn occurred in 6 of 15 patients (40%) who had a simultaneous or sequential bilateral LR recession. In bilateral Duane syndrome, bilateral LR recession was performed in 10 patients, and was combined with ipsilateral MR resection in two patients with a success rate of 75%. Higher success rate was associated with young age at surgery (P = .03) and smaller angle of deviation (p = .04). The mean follow-up was 6.3 months.Conclusions: Surgical results in exotropic Duane syndrome are better in small angles of deviation and in younger age groups.

Associated syndromes in patients with Pierre Robin Sequence.

OBJECTIVES: Classically, Pierre Robin Sequence (PRS) is a triad of micrognathia, glossoptosis, and airway obstruction, although frequently associated with cleft palate. Current literature reports that Stickler syndrome is the most common syndrome associated with PRS, and 22q11 deletion syndrome (22q11 DS) as the second most common. This study identifies associations between PRS and genetic syndromes. METHODS: A retrospective chart review was performed to identify patients diagnosed with PRS over a 10-year period from 4/1/2007 to 4/1/2017 at a tertiary children's hospital. RESULTS: 4,052 consecutive charts were reviewed and 234 patients had a diagnosis of PRS confirmed with the triad of micrognathia, glossoptosis, and airway obstruction. Of note, all of these patients had cleft palate. Of the 234 patients with PRS, 65 patients had syndromic diagnoses (28%). One patient had 22q11 DS (0.43%), and 31 patients had Stickler syndrome (13.2%). Additionally, 3 patients had central hypoventilation syndrome, 3 patients had Duane syndrome, 2 patients had Cornelia de Lange syndrome, 2 patients had Emanuel syndrome, 2 patients had Gordon syndrome, 2 patients had Mobius syndrome, 2 patients had Nager syndrome. Multiple other syndromes were identified, but occurred in isolated cases. CONCLUSION: This study supports literature that PRS is most commonly associated with Stickler Syndrome but rarely associated with 22q11 DS given that only 1 patient had both PRS and 22q11 DS.

Avoiding blindness in managing epistaxis for a child with Duane's Retraction Syndrome.

Duane's Retraction Syndrome (DRS), a congenital cranial dysinnervation disorder, accounts for 5% of all strabismus. A vascular anomaly in DRS, which became clinically relevant in the context of significant epistaxis, is presented. A 15-year-old girl with DRS underwent a rhinological procedure for traumatic nasal deformity and suffered large volume epistaxis. Using angiography, an anatomical variation was identified, noting the ophthalmic artery was supplied by branches from the sphenopalatine artery, facial artery, and middle meningeal artery; not from the internal carotid artery. Hence epistaxis control was achieved via alternative methods, and unilateral blindness was avoided.

Increased restriction from an accessory lateral rectus in exotropic Duane syndrome.

Supernumerary extraocular muscles can cause restrictive strabismus, unusual ocular movements, and a persistent positive forced duction test. Even among patients with clinically typical strabismus, intraoperative testing and surgical exploration may reveal the presence of supernumerary extraocular muscles. We report the case of a patient with exotropic Duane syndrome found intraoperatively to have an accessory lateral rectus muscle, with histopathologically confirmed striated fibers.

Lateral rectus muscle recession for intermittent exotropia with anomalous head position in type 1 Duane's retraction syndrome.

BACKGROUND: We questioned how to treat for intermittent exotropia in type 1 Duane's retraction syndrome (DRS). To avoid secondary abduction deficit and late overcorrection on the affected eye following ipsilateral lateral rectus (LR) recession, we performed less correction of the lateral rectus (LR) recession to correct exodeviation and anomalous head position (AHP). We report the surgical outcomes of LR recession in patients with unilateral type 1 DRS. METHODS: Four patients who underwent less correction of LR recession in the affected eye to correct intermittent exotropia and AHP to the contralateral side in type 1 DRS were enrolled. Data on preoperative and postoperative angle of exodeviation, degree of AHP, ocular motility, global retraction, palpebral fissure change, and complications were retrospectively obtained. Success was defined as postoperative deviation within 8 prism diopters (PD) and AHP < 5°. RESULTS: The preoperative angles of exodeviation and AHP were significantly improved after LR recession. The median grade of abduction limitation was improved from - 1.3 to - 0.8 postoperatively. Final median value of deviation was orthotropia in the primary position of the eye with the normal motility. All patients had successful outcomes without overcorrection or further abduction limitation in DRS eyes. CONCLUSIONS: Less correction of ipsilateral LR recession may be useful for correcting intermittent exotropia and AHP in patients with type 1 DRS.

Bilateral Type-I Duane's Retraction Syndrome with bilateral Crocodile Tears: A Case Report.

BACKGROUND: Duane's retraction Syndrome is a congenital form of strabismus characterized by horizontal eye movement limitation and globe retraction with palpebral fissure narrowing in attempted adduction. It may be associated with co-existing ocular and systemic pathologies. Crocodile tears, or a paradoxical gustatory lacrimal reflex can be either congenital or acquired. The congenital cases typically are associated with Duane's syndrome in most of the cases. CASE: We present in our case report, uncommon case of bilateral Duane's syndrome with bilateral crocodile tears - both of which can be assumed to be of probably central origin. Though several cases have been reported, there are very few from the Indian subcontinent. Here, we also review the literature of the syndrome with crocodile tears. CONCLUSION: All cases of Duane's retraction syndrome warrant a thorough screening for coexisting ocular and systemic abnormalities. Ours is a classic report of bilateral Duane's syndrome with bilateral congenital crocodile tears, the coexistence of these two anomalies emphasising the aetiology to be anomalous innervation occurring at central level i.e. is brain stem.

Bilateral Superior Rectus Transposition With Bilateral Medial Rectus Recession for Möbius Syndrome.

Bilateral superior rectus transposition with bilateral medial rectus recession has been described successfully for treatment of Duane's syndrome but never for Möbius syndrome. The authors describe a child with Möbius syndrome who presented with large bilateral abduction deficits and esotropia. This surgical treatment resulted in marked improvement of said deficits. [J Pediatr Ophthalmol Strabismus. 2017;54:e81-e82.].

Imaging of Cranial Nerves III, IV, VI in Congenital Cranial Dysinnervation Disorders.

Congenital cranial dysinnervation disorders are a group of diseases caused by abnormal development of cranial nerve nuclei or their axonal connections, resulting in aberrant innervation of the ocular and facial musculature. Its diagnosis could be facilitated by the development of high resolution thin-section magnetic resonance imaging. The purpose of this review is to describe the method to visualize cranial nerves III, IV, and VI and to present the imaging findings of congenital cranial dysinnervation disorders including congenital oculomotor nerve palsy, congenital trochlear nerve palsy, Duane retraction syndrome, Möbius syndrome, congenital fibrosis of the extraocular muscles, synergistic divergence, and synergistic convergence.

A High Prevalence of Exotropia in Patients With Duane Retraction Syndrome in a Tertiary Eye Care Center in South India.

PURPOSE: To determine the prevalence and clinical characteristics of patients with Duane retraction syndrome presenting with exotropia in a tertiary eye care center. METHODS: Medical records of 140 patients with Duane retraction syndrome and exotropia (of the total 441 patients with Duane retraction syndrome) seen from 2000 to 2009 were reviewed. Characteristics studied included age at presentation, gender, laterality, manifest primary position, abnormal head posture, ocular motility, and overshoots. Data were collected regarding associated ocular or systemic abnormalities and amblyopia. RESULTS: The mean age of the patients at presentation was 16.96 ± 15.09 years (range: 1 to 70 years). Of the 140 patients with Duane retraction syndrome and exotropia, 59 (42%) were male. Unilateral type I Duane retraction syndrome accounted for 118 (84.2%), type II for 7 (5%), and type III for 10 (7.1%) patients, whereas 5 (3.6%) had Duane retraction syndrome and bilateral exotropia. Duane retraction syndrome was seen in the left eye, right eye, and both eyes in 97 (69%), 37 (26%), and 6 (4%) patients, respectively. Exotropia ranged from 10 to 60 prism diopters. An abnormal head posture was noted in 101 (72%) and upshoot in 26 (18.6%) patients. Reported ocular and systemic abnormalities in these patients included cataract (6), aniridia (1), nasolacrimal duct block (1), and retinal breaks (1). CONCLUSIONS: This is an exclusive study on a large series of patients with Duane retraction syndrome and exotropia. Almost one-third of patients with Duane retraction syndrome patients might have exotropia. Although patients with Duane retraction syndrome and exotropia had clinical characteristics and associations similar to those with Duane retraction syndrome and esotropia, there was an increased propensity for overshoots and face turn opposite to the affected eye, which the authors hypothesize to be due to a tight or short lateral rectus muscle. [J Pediatr Ophthalmol Strabismus. 2017;54(2):117-122.].