Unilateral Duane Syndrome Research Articles

Refractive error in unilateral Duane syndrome

To investigate whether chronic co-contraction of the medial and lateral rectus muscles leads to higher against-the-rule astigmatism in affected versus fellow eyes in Duane syndrome. A database of 4,103 patients of Dr. Arthur Jampolsky was queried for diagnosis of Duane syndrome. Inclusion criteria were unilateral Duane syndrome and complete data set. Refractive error was compared between Duane and fellow eyes. A total of 84 patients with unilateral Duane syndrome were identified. The spherical equivalent of Duane eyes and fellow eyes was similar (0.4 vs. 0.2 [P = 0.14]). Mean cylinder power was higher in Duane eyes compared to fellow eyes (0.7 vs 0.4 [P = 0.0003]). There was modest evidence of more against-the-rule astigmatism in Duane eyes compared to fellow eyes (P = 0.04) but no difference for with-the-rule astigmatism (P = 0.83). Duane compared to fellow eyes were, however, significantly more likely to have oblique astigmatism (P = 0.004) or any astigmatism at all (P = 0.0005). Duane eyes compared to fellow eyes had higher astigmatism that was more likely to be oblique. Our study lends support to the hypothesis that extraocular muscles may influence refractive error.

Refractive error in unilateral Duane syndrome

Research on the effect of strabismus surgery on refraction suggests that tension exerted on the globe by extraocular muscles influences refractive error. We studied differences in refractive error between Duane and fellow eyes in patients with unilateral Duane syndrome. We hypothesized that chronic co-contraction of the medial and lateral rectus muscles leads to higher astigmatism in Duane versus fellow eyes.

Nishida’s procedure combined with medial rectus recession for large-angle esotropia in Duane syndrome

Two patients presented large-angle esotropia due to unilatelal Duane syndrome type I. We report the course of a simple muscle transposition procedure (the Nishida procedure) with medial rectus muscle recession for large-angle esotropia in two cases of unilateral Duane syndrome type I. Case 1: A 5-year-old boy had Duane syndrome type I OS. He had esotropia of 40 prism diopters, and the left eye could not abduct to the midline. Postoperatively, his esotropia decreased to 6 prism diopters and the abduction improved to 45°. Case 2: A 5-year-old girl had Duane syndrome type I OS with a marked facial turn. She had esotropia of 40 prism diopters in primary position, and the left eye could not abduct to midline. Postoperatively, the facial turn resolved, the esotropia decreased to 8 prism diopters, and the abduction improved to 30°. This procedure improves large-angle esotropia and abduction deficits in unilateral Duane syndrome type I.

Clinical features associated with an I126M α2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome

We describe the clinical phenotype of a Mexican family segregating Duane syndrome as an autosomal-dominant trait linked to chromosome 2q31 (DURS2) and previously reported to harbor a heterozygous alpha2-chimaerin missense mutation. A 5-generation Mexican family was analyzed. Ten affected subjects were available for clinical examination. Participating subjects were tested for visual acuity, ocular alignment by prism cover testing, ocular ductions and versions, and globe retraction. In children, alignment was measured with the Krimsky test in cardinal positions of gaze. Ten cases were included, 6 female and 4 male subjects. Five cases presented with bilateral and 5 with unilateral Duane syndrome. The right side was the most commonly affected side on unilateral cases. Five cases exhibited exotropia, 4 esotropia, and 1 hypotropia. Seven patients had severe limitation of abduction and two had moderate limitation. Four patients had mild adduction limitation and 4 had moderate limitation. No additional anomalies such as fourth (trochlear) nerve palsy, blepharoptosis, or dense amblyopia, which have been reported in previous families with Duane syndrome, were observed. All 3 cases that exhibited vertical dysfunction had upgaze limitation. One instance of nonpenetrance was recorded. Considerable intrafamilial clinical variability was observed in this Duane syndrome pedigree that carried a alpha2-chimaerin mutation. The presence of bilateral involvement and associated vertical movements, which commonly are observed in this and other DURS2 families, could suggest the occurrence of CHN1 mutations as the source of the disease in isolated or familial DURS cases.

Duane Retraction Syndrome, Nystagmus, Retinal Pigment Epitheliopathy and Epiretinal Membrane with Micro- and Pachygyria, Developmental Delay, Hearing Loss and Craniopharyngioma

Purpose: To report the association of Duane syndrome with nystagmus and a patterned hyperpigmentation of the retinal pigment epithelium, developmental delay, micro- and pachygyria and craniopharyngioma. Case Report: We describe a 12-year old girl with developmental delay, hearing loss, cortical micro- and pachygyria, and a cystic craniopharyngioma; her ocular features include unilateral Duane syndrome, monocular nystagmus under binocular conditions, and a patterned hyperpigmentation of the retinal pigment epithelium. Her mother had similar retinal pigment epithelial abnormalities. Conclusions: The combination of two neuronal migrational disorders, the unusual retinal pigment epithelial abnormalities in the proband and her mother, and evidence that each feature may be genetic and are suggestive of a genetic basis for this constellation of features.

Clinical variability in a three‐generation family with Duane’s syndrome

Abstract Purpose The majority of Duane syndrome cases are sporadic in origin with only 2‐5% patients showing a familial pattern. Only a few large families have been reported. The purpose of this study is to report the clinical presentations, abnormalities of ocular motility, and strabismus in 3 generations of a family with Duanes syndrome. Methods 22 members of a family of three generations (age range 6 years to 70 years) were examined. Detailed ophthalmologic assessment included assessment of vision, binocularity, and video recordings of ocular motility. Results Unilateral Duane syndrome type 1 was noted in the left eye of a lady in the first generation of the pedigree. In the second generation, of the 4 subjects examined, two females had esotropia with diplopia, one male had minimal bilateral abduction deficit with endpoint nystagmus and one sibling was normal. 12 subjects from the third generation were examined. Two of them had unilateral Duane’s syndrome. Two children had minimal abduction deficit with endpoint nystagmus. Three subjects had esotropia and diplopia requiring surgery. The mother of one of the affected subject had normal eye movements. Conclusion This large family with Duane syndrome appears to have a dominant form of inheritance with variable penetrance and expressivity. The skipped generation indicates unaffected carrier state. The variable phenotypic expression seen in this family suggests that classical Duane syndrome could be one end of a spectrum of eye movement disorders comprising esotropia, abduction deficits and globe retraction; the other end being normal ocular motility.

Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients

To determine the differences in various epidemiologic and clinical characteristics among types I, II, and III of unilateral Duane syndrome and between unilateral and bilateral Duane syndrome. A retrospective chart review of 331 patients with the Duane syndrome (291 unilateral and 40 bilateral) was performed. Various characteristics studied included sex, age at presentation, laterality, manifest primary position horizontal deviation, upshoot and downshoot, amblyopia, and associated ocular and systemic abnormalities. Unilateral types I and III Duane syndrome were more common in the left eye and in female patients, whereas type II had no such predilection. The mean age at presentation was significantly greater in type III patients. Type I patients had an almost-equal frequency of esotropia and exotropia, type II had exotropia, and type III had exotropia more commonly than esotropia. The upshoots and downshoots were more common in types II and III. There was no difference in amblyopia among various types of Duane syndrome. Associated ocular abnormalities were more common in types I and III, and systemic abnormalities were more common in type I. A manifest primary position horizontal deviation was more common in bilateral Duane syndrome. Exotropia was more common in unilateral cases, whereas esotropia was more common in bilateral cases. Unilateral types I, II, and III Duane syndrome differ in the mean age at presentation, primary position horizontal deviation, upshoot and downshoot, and associated ocular and systemic abnormalities. Bilateral Duane syndrome differs from the unilateral only in the primary position horizontal deviation.

Fixation Preference for the Affected Eye in Patients With Unilateral Duane Syndrome

Duane retraction syndrome is a congenital incomitant strabismus caused by dysinnervation of the medial and lateral rectus muscles. Patients with unilateral Duane syndrome (80-90% of cases) who exhibit a fixation preference tend to prefer the unaffected eye. We describe 8 patients with unilateral Duane syndrome who prefer the affected eye. The most frequent associated ophthalmic finding was decreased vision in the unaffected eye from anisometropia and/or amblyopia. An additional associated finding was decompensated intermittent exotropia in 2 patients.

Clinical Characteristics of Bilateral Duane Syndrome

To describe the clinical characteristics of bilateral Duane syndrome. Retrospective medical record review (1982 to 2003) for patients with a diagnosis of Duane syndrome (examined by a pediatric ophthalmologist) who were bilaterally affected and had no prior ocular surgery. Data collected included type of Duane syndrome, gender, family history for strabismus, abnormal head position, versions, strabismus measurements, associated ocular and/or nonocular abnormalities, and amblyopia status. Of 270 patients with the diagnosis of Duane syndrome, 37 (14%) were bilaterally affected. None had ocular surgery prior to referral. Twenty-two (59%) were male, 35 (95%) had the same Duane syndrome type in both eyes, 29 (78%) had strabismus in primary position, 9 (24%) had ocular and nonocular congenital abnormalities, 6 (16%) had amblyopia, and 8 (22%) had a recorded strabismus family history. Unlike unilateral Duane syndrome, bilateral Duane syndrome may be more common in males and associated with a higher prevalence of strabismus in primary gaze position. The prevalences of amblyopia, positive strabismus family history, and associated congenital abnormalities in this series of bilateral cases is similar to the reported prevalence.

Fixation Preference for the Affected Eye in Unilateral Duane Syndrome

Introduction: There is little published regarding patients with unilateral Duane syndrome who prefer the affected eye. The purpose of this study is to describe the ophthalmic findings of a series of such patients. Methods: Retrospective chart review for patients with unilateral Duane syndrome, fixation preference for the affected eye, and no previous ocular surgery. Results: Eight patients were identified from 270 records coded with the diagnosis of Duane syndrome from 1982 to 2003. All patients were Type I.

Vertical Rectus Muscle Transposition for Bilateral Duane Syndrome

Augmented transposition of the superior and inferior rectus muscles to the lateral rectus muscle is effective surgical treatment for esotropia in unilateral Duane syndrome. Medial rectus muscle recession in bilateral Duane syndrome may increase the risk of consecutive exotropia and cause limitation to adduction postoperatively. Vertical rectus muscle transposition may be useful in bilateral Duane syndrome with esotropia. We undertook a retrospective review of 11 patients with bilateral Duane syndrome and esotropia in primary position. All patients had vertical rectus muscle transpositions. Six patients had unilateral vertical rectus transpositions (2 eyes with and 4 without suture augmentation). Twelve eyes from 7 children (2 unilateral and 5 bilateral) had transpositions augmented with posterior fixation sutures. Posterior fixation suture were added to large deviations in patients without prior medial rectus recessions. The preoperative esotropia at distance was 22.8 +/- 6.3 prism diopters (PD). It reduced to 2.0 +/- 6.7 PD postoperatively. (P < 0.001) Esotropia at near changed from 21.0 +/- 5.8 PD preoperatively to 1.2 +/- 8.1 PD postoperatively. (P < 0.001) One patient with a 10-degree face turn had complete resolution postoperatively. One patient had a small undercorrection and developed a vertical deviation requiring additional surgery. All patients had improvement in abduction. Nine of 11 patients did not develop any limitation to adduction. One patient developed a -1 adduction deficit 5 years later. Three patients achieved fusion with a mean stereovision of 67 seconds of arc (range, 80-40 seconds.). Follow-up averaged 22.2 months (range, 1-100 months). Vertical rectus muscle transposition in patients with bilateral Duane syndrome and esotropia is an effective procedure to improve ocular alignment and motility while preserving adduction.

Single Medial Rectus Recession in Unilateral Duane Syndrome Type I

Single Medial Rectus Recession in Unilateral Duane Syndrome Type I