CONGENITAL CRANIAL DYSINNERVATION DISORDER (CCDD)

1. DUANE SYNDROME
BROWN SYNDROME
congenital cranial dysinnervation
disorders (CCDDs)

2. congenital cranial dysinnervation
disorders (CCDDs)
 Congenital, non-progressive abnormalities of cranial
musculature that result from developmental
abnormalities of one or more cranial nerves with
primary or secondary muscle dysinnervation.
 Primary may result from absence of normal muscle
innervations. Secondary may occur from aberrant
muscle innervations during development by
branches of other nerves.
 May be associated with secondary muscle pathology
and/or other orbital and bony structural
abnormalities.

3.  Predominantly vertical ocular motility defects are likely to
result from abnormalities in development of coulomotor
and trochlear nerves and/or nuclei (CFEOM variants and
congenital ptosis).
 Predominantly horizontal ocular motility defects are likely
to result from abnormalities in the development of the
abducent nerve and/or nucleus (Duane's syndrome and
HGPPS).
 Predominately facial weakness is likely to result from
abnormal development of facial nerve and/or nucleus,
sometimes with associated ocular motor abnormalities
(congenital facial weakness and Möbius syndrome).

4. Duane retraction syndrom
_ is a spectrum of ocular motility disorders characterized by
anomalous co-contraction of the medial and lateral rectus
muscles on actual or attempted adduction of the involved
eye or eyes; this co-contraction causes the globe to retract.
Horizontal eye movement can be limited to various
degrees in both abduction and adduction.
_An ups hoot or down shoot often occurs when the
affected eye is innervated to adduct; vertical slippage of a
tight lateral rectus muscle by 1–2mm, which has been
demonstrated by magnetic resonance imaging (MRI)
studies, has been proposed as the cause .
An alternative theory is that anomalous vertical rectus
muscle activity is responsible for up shoots and down
shoots, but this is less common.

5. Duane Retraction Syndrome

6. Introduction
 Although most affected patients have Duane
retraction syndrome alone, many associated
systemic defects have been observed, such
as:
- Goldenhar syndrome (hemifacial
microsomia, ocular dermoids,ear anomalies,
preauricular skin tags, and eyelid colobomas).
 -Wildervanck syndrome (sensorineural
hearing loss and Klippel-Feil anomaly with
fused cervical vertebrae).

7.  A defect in development occurring between
the fourth and sixth weeks of gestation,
 Most cases of Duane retraction syndrome are
sporadic, but approximately 5%–10% show
autosomal dominant inheritance.

8. Epidemiology
 (DRS) is one of the most common types of
special strabismus
 Overall prevalence of DRS in strabismic pt. (1
- 4 %)
 A higher prevalence in females with unilateral
disease..
 This female preponderance seems not to be
present in bilateral cases.
 there is a predilection for the left eye.

9. Symmetry
 Bilateral cases represent 15% to 20% of all cases
 The eyes can be asymmetrically affected in
these cases
. Bilateral DRS patient, adduction more affected on
the left eye.

10. etiology of Duane Syndrome
 In Duane retraction syndrome (DRS) there is
failure of innervations of the lateral rectus by a
hypoplastic sixth nerve nucleus, with
anomalous innervations of the lateral rectus by
fibers from the third nerve.

11. Is Duane Syndrome hereditary?
 Isolated Duane retraction syndrome usually
occurs in people with no history of the disorder in
their family.These cases are described as
simplex, and their genetic cause is unknown.
 Less commonly, isolated Duane retraction
syndrome can run in families.
 Familial cases most often have an autosomal
dominant pattern of inheritance, which means
one copy of the altered gene in each cell is
sufficient to cause the disorder. When isolated
Duane retraction syndrome is caused
by CHN1 mutations, it has an autosomal
dominant inheritance pattern.

12. Classification (Huber):
Type I ,
, the most common, is characterized by ;
 ○ Limited or absent abduction.
 ○ Normal or mildly limited adduction.
 ○ In the primary position, straight or slight
esotropia.

13. • Type II,
 the least common, is characterized by:
 ○ Limited adduction.
 ○ Normal or mildly limited abduction.
 ○ In primary position, straight or slight
exotropia

14. • Type III
 Type III is characterized by (Fig. 18.59):
 ○ Limited adduction and abduction.
 ○ In the primary position, straight or slight
esotropia.
 ○ In some cases phenotypic variants have
been allied to
 differing genotypes.

15. (A)Straight eyes in the primary
position;
(B) (B) limitation of left abduction
with widening of the left
palpebral fissure;
(C) grossly limited left adduction
with narrowing of the palpebral
fissure

16. Type I Type II Type III
retraction Retraction on
adduction = =
Limitation Limited abduction Limited adduction Limited abduction
prevalence Most common
(50_80 %)
Least common In between
In primary
position
Straight or mild
esotropia
Straight or mild
exotropia
Straight or mild
esotropia
Face turned Towards the effected
eye
Towards the
normal eye
Towards the
effected eye

17.  Why there is many type despite the same
pathophysiology ?

18. Ocular movement :
 The movement of normal eye is rotational
movement around the axis of fick , there is
no transitional movement .

19. In Duane retraction syndrome
The eye move transitional mov. In form of
retraction of the globe on adduction , as a result
of co-contraction of both ; MR and LR
with resultant narrowing of the palpebral fissure
 This occur due to same innervations of both
transverse recti , as the eye don’t follow the
sherrington law (increased innervations to an
extra ocular muscle (e.g. right medial rectus) is
accompanied by a reciprocal decrease in
innervations to its antagonist (e.g. right lateral
rectus).

20. Which are the symptoms of Duane
Syndrome?
 There is usually BSV in primary position ,
often with face turn the effected eye
showing the the following motility defect :
1- restricted abduction , which may be complete or
partial ,The amount of limitation of abduction will
depend partly on the amount of co-contracture of
the medial rectus muscle, but even more
importantly will depend on the degree of existing
normalVI nerve innervations to the lateral rectus
muscle.
Variable degree of
abduction deficit in
the left eye

21.  2- restricted adduction , which is usually
partial and rarely complete , Deficits in
adduction to different magnitudes are also
common in DRS, mainly due to the co-
contraction of the lateral rectus muscle in
attempted adduction

22. 3- retraction of the globe on adduction : as
result of co-contraction of LR and MR , with
resultant narrowing of palpebral fissure as a
result of passive movement of the eyelids
over the retracting globe
The degree of retraction vary from gross to
imperceptible , this proportionate with the
severity of Duane syndrome .

23. 4-an up Shoot or down shoot in adduction ; it
has been suggested that tight LR slip over or
under the globe ( leash ) phenomena


24.  Deficiency of convergence in which the
affected eye remains fixed in the primary
position while the unaffected eye is
converging

25. Evaluation Following Diagnosis
 Evaluation should include the following:
 Family history
 Ophthalmologic examination focusing on primary gaze,
head position, extra ocular movements, and aberrant
movements
 Optional forced duction testing and/or force generation
testing
 Photographic documentation for future review
 General physical examination to assess for presence of
other associated syndromes, including hearing evaluation.
 Evaluation of family members at risk within the first year of
life
 Consider genetics counseling if familial pattern identified

26. Treatment
 The majority of patients with Duane
syndrome do not need any surgical
intervention.
 • Most young children maintain BSV by using
a CHP to compensate for their lateral rectus
weakness and surgery is needed only if there
is evidence of loss of binocular function; this
may be indicated by failure to continue to use
a CHP.

27.  In adults or children over the age of about 8
years surgery
 can reduce a head posture that is
cosmetically unacceptable
 or causing neck discomfort. Surgery may also
be necessary
 for cosmetically unacceptable up-shoots,
down-shoots or
 severe globe retraction.

28.  Amblyopia, when present, is usually the
result of
 anisometropia rather than strabismus.
Unilateral or bilateral muscle recession or
transposition of the vertical recti are the
procedures of choice.The lateral rectus of the
involved side should not be resected, as this
increases retraction

29. Type of surgery
 Retraction - recession of horizontal recti
 AHP –-- un equal recession
 Up shoot , down shoot ----Y- procedure
( split the LR)

30. BROWN SYNDROME
 Brown syndrome is a condition involving
mechanical restriction,
 typically of the superior oblique tendon. It is
usually congenital
 but occasionally acquired. Recent evidence
strongly suggests that
 at least some congenital cases should be
categorized as a CCDD.

32. ; absence of left
superior oblique
over action;
chin elevation and
left head tilt

33. Classification
Brown
syndrom
congenital
Idiopathic
Congenital
click
syndrome
acquired
where there is impaired
movement of the
superior oblique tendon
through the
trochlea.

34. Classification
acquired
inflammation
scleritis RA
Pan
sinusitis
traumatic
accidental Iatrogenic
Retinal
surgery
to the
trochlea or
superior
oblique
tendon.

35. Superior oblique muscle

37. Diagnosis
 • Major sign:
○ Usually straight with
BSV in the primary
position
○ Limited elevation
in adduction

38. ○ Limited elevation on up gaze is
common
○ Normal elevation in abduction
○ Absence of superior oblique over
action
○ Positive forced duction test on
elevating the globe in adduction.

39. primary position, up gaze, adduction,
abduction

40. Variable signs
○ Down-shoot in adduction.
○ Hypotropia in primary
position.
○ CHP with chin elevation and
ipsilateral head tilt

41. Treatment
 Congenital cases do not usually require
treatment as long as binocular function is
maintained with an acceptable head posture.
Spontaneous improvement is often seen
towards the end of the first decade.
 Indications for treatment include
significant primary position hypotropia ,
deteriorating control and/or an unacceptable
head posture.

42.  The recommended procedure for congenital
cases is lengthening of the superior oblique
tendon.
 Acquired; treatable etiology should be
addressed specifically. Depending on the
cause, acquired cases may benefit from
steroids, either orally or by injection near the
trochlea.

43. • Möbius syndrome :
 Rare congenital condition associated with both
sixth and seventh nerve palsies.
 Esotropia is usually present.
 Limitation of abduction and/or adduction.
 A unilateral or bilateral facial nerve palsy is
either partial or complete. Other cranial nerve
palsies as well as deformities of the limbs, chest,
and tongue may occur.