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Similar to Duane Retraction Syndrome- Congenital Cranial Dysinnervation Disorder (Musculofascial Anomaly)
Duane Retraction Syndrome- Congenital Cranial Dysinnervation Disorder (Musculofascial Anomaly)
- 1. DUANE RETRACTION SYNDROME PRESENTER- DR.TANVI GUPTA MODERATOR- DR. DAMARIS MAGDALANE
- 2. Previous Year DNBQuestions Classify Congenital Cranial Dysinnervation Disorders (CCDDs). (3marks) Describe Duane Retraction syndrome and its management. (7marks) (Jun 2014) What is Duane Retraction Syndrome (1) Enumerate types (2) Describe clinical features (3) Management of a case of Duane Retraction Syndrome with abnormal head posture(5) (Jun 2015) Classification (5) Principles in management of Duane Retraction Syndrome (5) (Dec 2016)
- 3. Group of strabismusentities that have in common a developmental defect of one or more cranial nerve nuclei and, as a result, hypoplasia or absence of the nerves themselves. These anomalies lead to various patterns of abnormal innervation of the eye muscles, which often result in secondary abnormal structural changes to the affected muscles, usually stiffening or contractures. Onset of the innervation anomalies can be as early as the first trimester in utero. Congenital Cranial Dysinnervation Disorders
- 4. CCDDs Duane retraction syndrome CongenitalFibrosis of the Extraocular Muscles (CFEOM) Möbius syndrome congenital paresis of facial and abducens cranial nerves Congenital fourth nerve palsy (some cases) Congenital Brown syndrome
- 5. • Also k/aStilling-Turk-Duane syndrome (after the ophthalmologists who described the condition) Duane Retraction Syndrome
- 6. ETIOLOGY 1. Myogenic Theory: Thistheory, suggested by earlier studies, indicated that there is fibrosis or inelasticity of the lateral rectus muscles and that the medial rectus muscle inserts abnormally far posteriorly. 2. Neurogenic Theory: A disturbance in embryologic development between weeks 4-8 results in an absent abducens nerve with anomalous innervations of the lateral rectus muscle by a branch of the oculomotor nerve.
- 7. Congenital miswiring ofthe medial and lateral rectus muscles
- 10. Diagrammatic representation ofmisdirection of nerve fibers in Duane's syndrome. The aberrant nerve pathway is shown in red, and the dotted lines represent nerve hypoplasia or agenesis. (A) type 1: poor abduction and good adduction. Agenesis of the sixth nerve and part of the third nerve splits to innervate both the medial and the lateral rectus musdes, but most of the medial rectus nerve goes to the medial rectus musde so adduction is intact. (B) Type II : poor adduction and good abduction. Sixth nerve is intact and innervates the lateral rectus musde, but the medial rectus nerve splits to innervate the medial and lateral rectus musdes. There is poor adduction because the lateral rectus contracts against the medial rectus musde. (C) Type llI: poor adduction and poor abduction. Agenesis of the sixth nerve and part of the third nerve splits to innervate both the medial and the lateral rectus musdes. The split is equal so the eye does not move in or out. (D) Synergistic divergence and paradoxical abduction on attempted adduction. Agenesis of the sixth nerve and part of the third nerve splits to innervate both the medial and the lateral rectus musdes, but most of the medial rectus innervation goes to the lateral rectus musde. When the eye attempts to adduct, it abducts because the medial rectus nerve innervates the lateral rectus muscle.
- 11. CLASSIFICATION (HUBERS) Type Ithe most common (50-80%) Limited or absent abduction. Normal or mildly limited adduction. In the primary position, straight or slight esotropia.
- 12. Type II (leastcommon) Limited ADDUCTION Normal or mildly limited abduction In primary position, straight or slight exotropia
- 13. Type III Limited ADDUCTIONAND ABDUCTION In the primary position, straight or slight esotropia.
- 14. EPIDEMIOLOGY • Prevalence ofabout 1/1000 in general population • 80% of cases occur unilaterally, with a LE predominance
- 15. • Okihiro's syndrome:Duane syndrome and radial ray defects • Goldenhar syndrome: malformation of the jaw, cheek and ear, usually on one side of the face • Wildervanck syndrome: Duane syndrome, Klippel-Feil anomaly, and deafness • Moebius syndrome : congenital paresis of facial and abducens cranial nerves • Holt-Oram syndrome: abnormalities of the upper limbs and heart • Morning Glory syndrome: abnormalities of the optic disc
- 16. CLINICAL FEATURES 1) Complete,or less often partial absence of outward movement (abduction) of the affected eye
- 17. • 2) Partial,or rarely complete deficiency of inward movement (adduction) of the affected eye
- 18. • 3) Retractionof the affected eye into the orbit when it is adducted- > co-contraction of medial and lateral rectus leading to narrowing of palpebral fissure • 4) Partial closure of the eyelids (pseudoptosis) of the affected eye when it is adducted
- 19. 5) A sharplyoblique movement of the affected eye, either down and in (downshoot) or up and in (upshoot ), when it is adducted.
- 20. Marked upshoot indextroversion
- 21.
- 22. The mechanical causeof these vertical movements is described as due to a “bridle effect” of the tight LR, also known as the “leash effect”. As the globe adducts and moves above or below the horizontal plane, there is sudden slippage of the tight LR, causing an upshoot or downshoot. In severe cases, this has been described to manifest even with the slightest of movement in adduction. These mechanical upshoots and downshoots in DRS are characterized by a sudden abrupt movement following a small vertical movement in adduction and usually do not have primary gaze vertical tropia.
- 23. 0 Line bisectsthe pupil of involved eye. 1 Line lies between the pupillary center and the pupillary margin. 2 Line lies between the pupillary margin and the limbus. 3 Line lies at the limbus or over the sclera. 4 Cornea disappears below the lid (pumpkin seed sign). Grading for overshoots: With the involved eye in adducted position, a straight line parallel to the intermedial canthal line is drawn from the pupillary center of the fellow eye.
- 24. 6) Deficiency ofconvergence, with the affected eye remaining fixed in the primary position while the other eye is converging 7) Abnormal head posture to achieve binocular single vision in primary position. Longstanding torticollis (since birth) leads commonly to craniofacial asymmetry
- 25. D/D • Congenital sixthnerve palsy • Infantile esotropia • Mobius syndrome • CFEOM • Infantile Myasthenia Gravis
- 26. MANAGEMENT A) NON SURGICAL •Spectacles or contact lenses for refractive error • Treat amblyopia • Prism glasses to improve the compensatory head position • Botulinum Toxin: botulinum toxin decreases the amount of deviation and leash phenomenon (upshoot or downshoot of globe with adduction).
- 27. B) SURGICAL The aimsof surgery are: • To correct a manifest strabismus • To centralize the field of binocular single vision (BSV) • To overcome or reduce the need for a large compensatory head posture (CHP) Severe globe retraction with or without upshoot and down-shoot (RUD)
- 28. Surgery is indicatedfor the following reasons: • Decompensation, giving rise to manifest strabismus • Abnormal head posture • Severe globe retraction with or without upshot and down-shoot
- 29. • For types1 and 3 with head turn: recession of medial rectus muscle or horizontal transposition of vertical rectus muscles • For types 1 and 3 with Leash Phenomenon and/or severe globe retraction: recession of both medial and lateral rectus muscles with possible Y splitting of the lateral rectus muscle • For type 2 with head turn and fixation with involved eye: recession of contralateral lateral rectus muscle • For type 2 with Leash Phenomenon: recession of lateral rectus muscle with possible Y-splitting
- 30. Complications of Surgery •Undercorrection of primary position esotropia and the compensatory head turn • Overcorrection leading to secondary exotropia • New vertical deviations can occur after vertical rectus transposition procedures
- 31. The differential diagnosisof infantile esotropia includes Duane's syndrome, congenital fibrosis syndrome, congenital sixth nerve palsy (Möbius syndrome associated with sixth nerve paresis), and infantile myasthenia gravis. These disorders all have limited abduction and, therefore, can be differentiated from infantile esotropia where the ductions should be full. This differentiation may be difficult in patients with large-angle infantile esotropia and tight medial rectus muscles. Even in these patients however, vestibular stimulation by doll's head maneuver reveals full ductions and good abduction saccades.
- 32. AAO 1. Observation ofglobe retraction on adduction obviates the need for neurologic investigation for sixth nerve palsy, from which it must be differentiated; however, retraction can be difficult to appreciate in an infant. 2.Another indicator that the condition is not sixth nerve palsy is the lack of correspondence between the absent or typically modest primary position esotropia (usually <30Δ) and the usually profound abduction deficit (a comparison useful in ruling out paralysis in other entities as well). 3. A further point of differentiation is that even in esotropic Duane retraction syndrome, a small-angle exotropia is frequently present on gaze to the side opposite the affected eye, a finding not present in lateral rectus muscle paralysis. 4.Finally, examination at the slit lamp can help confirm the diagnosis in mild cases: if the vertical slit-lamp beam cast from the cornea onto the lower eyelid is disrupted by globe retraction when the eye adducts, Duane retraction syndrome is present.
- 33. Goldenhar syndrome with hemifacialmicrosomia. Patient has facial asymmetry, a hypoplastic left ear (microtia), an ear tag near the right ear, epibulbar dermolipoma in the left eye, and esotropia. Patient also has Duane retraction syndrome, left eye
- 35.