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.

Pregnancy in a woman with premature ovarian insufficiency associated with blepharophimosis, ptosis, epicanthus inversus syndrome type I. A case report.

BACKGROUND: Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type I is a rare disorder that causes a recognizable pattern of eye abnormalities and is associated with premature ovarian insufficiency. There is no data to guide the treatment of these patients when presenting with infertility. CASE: A 30-year-old, nulligravid woman with premature ovarian insufficiency associated with BPES type I presented to care secondary to a desire to conceive. Ovarian stimulation with gonadotropins was performed, and the patient conceived and delivered viable twins. CONCLUSION: It is not known whether premature ovarian insufficiency associated with BPES type I follows the same clinical course as idiopathic premature ovarian insufficiency. In patients with BPES type I who present with infertility, ovarian stimulation with gonadotropins may be a reasonable therapeutic option.

Duane retraction syndrome: a rare cause of strabismus.

Duane retraction syndrome (DRS) is a rare cause of strabismus in children. It has a characteristic ocular motility disorder and constitutes approximately 1% of all cases of strabismus. We describe a 9-year-old girl with absent or restricted horizontal eye movement, globe retraction and narrowing of the palpebral fissure on attempted adduction. DRS is classified into three types based on the different restrictions of ocular motility and can be associated with various ocular and systemic anomalies.

Duane's syndrome: surgical outcome and non ophthalmologic associations.

BACKGROUND: Duane retraction syndrome (DRS) is the most common of the ocular congenital cranial dysinnervation disorders .This study evaluates the types of Duane syndrome and its management in patients presenting to the paediatric and strabismus unit of a tertiary care eye hospital. METHODS: This case series study involved 41 patients diagnosed with Duane syndrome between January 2007 and December 2009. History of presenting complaints, past treatment and family history were recorded. Ocular examination and orthoptic assessment was carried out RESULTS: Forty one patients were included in this case series study. It involved 10 right eyes, 27 left eyes and both eyes of 4 patients. There were 26 females and 15 males. Type-1 Duane syndrome was present in 28 (68.3%), type 2 in 8 (19.5%), Type-3 in 4 (9.8%) and type-4 with synergistic divergence was present in 1 (2.4%) patient. Comorbidity was present in 6(14.6%) patients. Surgery was carried out in 26 (63.4%) patients either for  abnormal head posturing or significant upshoots or down shoots. Upshoots noted in 21 eyes, were completely or partially resolved in 15 cases. Among 4 patients with down shoots on adduction, complete resolution was seen in 1. The pre and post-operative measurements of horizontal deviation showed statistically significant difference in Duane type-1 and 2, where as in Duane type-3 it was not significant. One patient with type-4 Duane did not undergo surgery. CONCLUSIONS: Recession of the horizontal recti is more effective in treating the upshoot or down shoot associated with DRS as compared to recession and y-split of the horizontal muscle.

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.

Refractive features and amblyopia in Duane's Retraction Syndrome: A review of the 582 patients.

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.

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.

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.

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.

Infantile esotropia could be oligogenic and allelic with Duane retraction syndrome.

PURPOSE: To describe phenotyping and linkage analysis results for available members from a consanguineous nuclear family with hereditary congenital strabismus. METHODS: Both parents and all 12 children underwent clinical examination. Available affected and several unaffected family members had venous blood sampling for DNA extraction and 10K single nucleotide polymorphism (SNP) genotyping (Affymetrix Gene Chip® Human). Multipoint logarithm of the odds (LOD) score calculations were performed assuming an autosomal recessive mode of inheritance with 100% penetrance and disease allele frequency of 0.01%. RESULTS: Three children had non-syndromic large-angle infantile esotropia without significant hyperopia. A fourth child had left esotropic Duane retraction syndrome. A fifth child who had esotropia in the setting of prematurity and childhood poliomyelitis was excluded from the analysis. A sixth child had keratoconus and was excluded. Both parents and the remaining 6 children had no significant orthoptic or ophthalmic findings. Using linkage analysis including the 4 esotropic children, disease loci were mapped to regions on chromosomes 3p26.3-26.2 and 6q24.2-25.1 using multipoint linkage analysis with LOD scores of 3.18 and 3.25 respectively. Linkage to these regions persisted when the esotropic Duane retraction syndrome patient was excluded from the linkage analysis (LOD scores of 2.00 and 2.32, respectively). CONCLUSIONS: Non-syndromic infantile esotropia could be related to susceptibility loci on chromosomal regions 3p26.3-26.2 and 6q24.2-25.1 and may share alleles that underlie Duane retraction syndrome.

Understanding ocular torticollis in children.

Ocular abnormal head posture (AHP) or torticollis is a frequent sign in pediatric pathology The incidence is 5.6% in ophthalmological practice and 3.19% in pediatric ophthalmological practice. The abnormal head posture is adopted to improve visual acuity maintain binocular single vision, center residual visual field with the body or for cosmetic reasons. Face turn is the most frequent abnormal head posture in pediatric ophthalmology. The more common diseases causing face turn are Duane syndrome, congenital fibrosis of extraocular muscles, nystagmus, refractive errors, visual field defects. The most frequent ocular causes of head tilt in children are congenital nystagmus, superior oblique paresis, dissociated vertical deviation, Brown syndrome, refractive errors. Chin-up or chin-down abnormal head postures are most commonly caused by "A" and "V"-pattern strabismus, palpebral ptosis, nystagmus, refractive errors. Torticollis is not a diagnosis, but it is a sign of an underlying disease. There are ocular diseases which diagnosis is straightforward for general practitioner, pediatricians or pediatric surgeons (horizontal nystagmus, lateral rectus paralysis, ptosis, esotropia), but others less obvious (superior oblique paralysis, Duane syndrome, A and V-pattern strabismus, torsional nystagmus) because of the compensatory head posture, and these last disorders are predisposed to confusion with congenital AHP Interdisciplinary collaboration between ophthalmologist, pediatrician, pediatric surgeon, ENT specialist and neurologist is mandatory in establishing the etiology of AHP Every child with AHP must be examined by an ophthalmologist.

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.

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.

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.

Vertical rectus muscle transposition for correcting abduction deficiency in Duane's syndrome type 1 and sixth nerve palsy.

PURPOSE: To report the clinical outcome and complications of the Scott Foster procedure for treating abduction deficiency in patients with Duane's syndrome type 1 and sixth nerve palsy. METHODS: A retrospective, interventional case series included 62 consecutive patients (62 eyes: 38 eyes with Duane's syndrome and 24 eyes with sixth nerve palsy) who underwent the Scott Foster procedure for treatment of abduction deficiency. The main outcome measures were deviation, face turn, and abduction deficiency. RESULTS: In patients with sixth nerve palsy, mean distance deviation improved from 44.7+/-7.2 prism diopters (PD) before surgery to 12.5+/-4.0 PD after surgery (P<.05), and in patients with Duane's syndrome type 1, mean distance deviation improved from 31.5+/-4.3 PD preoperatively to 9.2+/-3.1 PD. Mean near deviation improved from 27.1+/-4.5 PD to 6.2+/-2.5 PD in patients with Duane's syndrome and from 40.3+/-6.2 PD to 13.7+/-3.4 PD in patients with sixth nerve palsy. Mean abduction deficiency improved from -4 to -2 (P<.05) in both groups. Face turn improved significantly after surgery. No patient had an overcorrection. No recurrence was detected. CONCLUSION: The Scott Foster procedure is effective for improving deviation, abduction deficiency, and face turn in patients with Duane's syndrome type 1 and especially in those with sixth nerve palsy.

Lateral rectus resection strabismus surgery in unilateral duane syndrome with esotropia and limited abduction.

BACKGROUND: Resection of the lateral rectus in Duane retraction syndrome (DRS) with esotropia (ET) and limited abduction can be a useful component of surgical planning in specific circumstances, when combined with medial rectus (MR) recession. This article reports the results of a prospective series of patients for whom this approach was used successfully. METHODS: Seven patients were treated, aged 3 to 52 years, with uniltaeral DRS with the following features: 1) ET at least 25 PD; 2) "mild" retraction on adduction; 3) clinically normal adduction; 4) significantly limited abduction; 5) no or mild upshoots/downshoots; and 6) positive forced duction to abduction at surgery. surgery involved MR recession up to 5.0 mm and LR resection of maximum 3.5 mm. Postoperative followup was at least 6 months in all cases. RESULTS: ET angles ranged from 25 to 32 PD; abduction limitations ranged from -3.5 to -4. All patients had face turn postures preoperatively. Postoperatively, the binoclar alignment in primary position was orthotropia and head postures wre eliminated in all patients. Abduction postoperatively ranged from -1 to -2.5; adduction ranged from -0.5 to -1. Two patients had minimal worsening of upshoots and downshoots after surgery. CONCLUSION: In treating DRS with ET and limited abduction, a small LR resection can be a safe and effective component of surgery. It has a low risk of worsening retraction or "crippling" adduction when done in appropriate cases.

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.].