Various characteristics studied included sex, age at presentation, laterality, manifest primary position horizontal deviation, upshoot and downshoot, amblyopia, and associated ocular and systemic abnormalities. [ncbi.nlm.nih.gov]

• Broad Thumb

  RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. [ncbi.nlm.nih.gov]

• High Arched Palate

  The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. [ncbi.nlm.nih.gov]

• Long Arm

  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. [ncbi.nlm.nih.gov]

• Retinal Pigmentation

  Her mother had similar retinal pigment epithelial abnormalities. [ncbi.nlm.nih.gov]

• Low Set Ears

  The proband had unilateral Duane retraction syndrome (DRS) with low-set ears bilaterally, a high arched palate, and clinodactyly. Motor development and cognitive function were normal. [ncbi.nlm.nih.gov]

• Normal Hearing

  RESULTS: Among the 17 patients with DRS, 15 demonstrated normal hearing according to pure tone audiogram. [ncbi.nlm.nih.gov]

• Beak Nose

  RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. [ncbi.nlm.nih.gov]

• Beaked Nose

  RTS is a multisystem condition characterized by psychomotor developmental delay, broad thumbs and great toes, short stature, and characteristic facies with a beaked nose. [ncbi.nlm.nih.gov]

Duane's Syndrome (type I) It may be confused with a paralysis of the muscle which causes the eye to turn outwards (lateral rectus) resulting in an unnecessary neurological workup. [strabismus.org]

See Workup for more detail. Management Medical therapy is the mainstay of management. [emedicine.medscape.com]

Approach to the patient: an overview The above review emphasizes the need to extend patient evaluation in cases of DRS beyond the routine clinical examination by a strabismologist to genetic analysis, systemic workup and neuroimaging. [dovepress.com]

• Karyotype Abnormal

  Chromosomes 4, 8, and 22 were chosen for study because previous reports had documented karyotypic abnormalities in unrelated patients with Duane retraction syndrome. RESULTS: No lod scores over 0.5 were found for markers on chromosomes 4, 8, or 22. [ncbi.nlm.nih.gov]

Management and treatment Management of DRS is mainly supportive and involves wearing spectacles or contact lenses to correct refractive errors; occlusion or penalization of the better-seeing eye for treatment of amblyopia or prisms to correct for abnormal [orpha.net]

CONCLUSION: Botulinum toxin injection is an alternative treatment for patients with DRS type 1 presents esotropia and face turn in children up to 3 years of age. [ncbi.nlm.nih.gov]

Treatment Treatment Options: Various treatments can be useful, ranging from prisms for mild cases to muscle surgery for a severe head turn or vertical deviations. [disorders.eyes.arizona.edu]

The treatment is individualised and most patients may benefit of surgical procedures. The goals of surgical treatment is: improved head posture, elimination of vertical deviation, reduced of enophthalmos and normal ocular alignment. [biomedsearch.com]

Prognosis Isolated DRS is a benign disorder which, if managed appropriately, results in excellent long term prognosis for vision. In some cases, amblyopia or loss of binocular single vision might develop. [orpha.net]

With careful follow-up, the long-term prognosis for good vision is usually excellent. [aapos.org]

The prognosis of surgery is not good; therefore, it is best to avoid surgery if patients have some form of binocular vision. [emedicine.medscape.com]

Prognosis Duane syndrome represents a spectrum of motility disorders in which the common feature is retraction of the affected eye on attempted adduction. [emedicine.com]

Numerous theories concerning the etiology and pathogenesis of Duane retraction syndrome and its relationship to the associated findings have been proposed, but the exact mechanism is still under investigation. [ncbi.nlm.nih.gov]

Ophthalmology and Neurology, Director of Neuro-Ophthalmology, Moran Eye Center, University of Utah School of Medicine Date: 03/03/2015 Secondary CORE Categories: Neuro-ophthalmology / Evaluation of Diplopia / Differentiating Paretic From Restrictive Etiologies [morancore.utah.edu]

Etiology DRS results from failure of normal development of the pontine abducens nucleus or nerve resulting in failure of the normal innervation of the lateral rectus muscle on the affected side. [orpha.net]

PURPOSE: 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. [ncbi.nlm.nih.gov]

Summary Epidemiology The prevalence of DRS is about 1/10, 000, representing about 1-5% of all strabismus cases. Females are more affected than males. [orpha.net]

"[Epidemiological and clinical aspects of Stilling-Turk-Duane syndrome]". J. Fr. Ophtalmol. (in French). 19 (8–9): 533–42. PMID 8944136. Further reading[edit] Andrews, Caroline V.; Hunter, David G.; Engle, Elizabeth C. (1993). "Duane Syndrome". [en.wikipedia.org]

Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients. J AAPOS 2008; 12:576-80. Kekunnaya R, Gupta A, Sachdeva V, Krishnaiah S, Rao BV, Vashist U, Ray D. [djo.org.in]

Considerations on pathophysiology and aetiology. Transactions of the Fifth International Orthoptic Congress, Cannes., pp.119-125. Journal Kim, J. H. and Hwang, J. [citethisforme.com]

As DRS type 3 partly share the same pathophysiology with type 1 and 2 DRS, the classification of DRS may have to be revised according to MRI findings. [journals.plos.org]

Huber A (1984) Duane’s Retraction Syndrome: Consideration of Pathophysiology and Etiology. In: Grune & Stratton Orlando (Eds.), Florida, USA, pp. 345-361. [medcraveonline.com]

[…] irregularly dominant manner with incomplete penetrance and variable expressivity [2] Duane Retraction Syndrome results from an absent or dysplastic abducens motor neurons with aberrant innervations of the lateral rectus muscle by the oculomotor nerve. [7] Pathophysiology [eyewiki.aao.org]

Surveillance is necessary to prevent or detect amblyopia. Vision therapy is advised for secondary convergence insufficiency. [orpha.net]

Prevention of secondary complications: Specialist examination early in life to detect refractive errors to prevent amblyopia and avoid compounding the motility problem; amblyopia therapy to prevent vision loss in the less preferred eye; surgery to prevent [ncbi.nlm.nih.gov]

Bilateral MR recession may also prevent contracture of the MR in the affected eye by creating fixation duress. [tnoajosr.com]

Primary Prevention Duane Retraction Syndrome occurs sporadically or is inherited. No means of primary prevention has been identified for this syndrome. The diagnosis of Duane Retraction Syndrome is primarily clinical. [eyewiki.aao.org]