Etiology, Classification, Clinical Features, Differential Diagnosis, Management Presented as DNB Resident Sri Sankaradeva Nethralaya, Guwahati

1. DUANE RETRACTION
SYNDROME
PRESENTER- DR. TANVI GUPTA
MODERATOR- DR. DAMARIS MAGDALANE

2. Previous Year DNB Questions
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 strabismus entities 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
Congenital Fibrosis 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/a Stilling-Turk-Duane syndrome (after the ophthalmologists
who described the condition)
Duane Retraction Syndrome

6. ETIOLOGY
1. Myogenic Theory:
This theory, 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 of the medial and
lateral rectus muscles

10. Diagrammatic representation of misdirection 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 I the most common (50-80%)
Limited or absent abduction.
Normal or mildly limited adduction.
In the primary position, straight or slight
esotropia.

12. Type II (least common)
Limited ADDUCTION
Normal or mildly limited abduction
In primary position, straight or slight exotropia

13. Type III
Limited ADDUCTION AND ABDUCTION
In the primary position, straight
or slight esotropia.

14. EPIDEMIOLOGY
• Prevalence of about 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) Retraction of 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 sharply oblique movement of the affected eye, either down and in (downshoot) or up and in (upshoot ), when it
is adducted.

20. Marked upshoot in dextroversion

21. https://www.dovepress.com/duane-retraction-syndrome-causes-effects-and-management-strategies-peer-reviewed-fulltext-article-OPTH

22. The mechanical cause of 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 bisects the 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 of convergence, 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 sixth nerve 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 aims of 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 indicated for the following reasons:
• Decompensation, giving rise to manifest strabismus
• Abnormal head posture
• Severe globe retraction with or without upshot and down-shoot

29. • For types 1 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 diagnosis of 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 of globe 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
hemifacial microsomia. 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. THANK YOU