ccnd

2. Congenital Cranial
Dysinnervation Disorders
(CCDD)
Dr Muhammad Sarwar Khan
TMO Ophthalmology
MTI KTH Peshawar

3. Duane Retraction Syndrome (Stilling-Turk-Duane
syndrome) congenital, nonprogressive strabismus
syndrome originally described by Alexander Duane in
1905.
• There is failure of innervation of the lateral rectus by a
hypoplastic sixth nerve nucleus, with anomalous
innervation of the lateral rectus by fibres from the third
nerve.
• It is the most common type of congenital aberrant
ocular innervation

4. EPIDEMIOLOGY
 ISOLATED CASES (70%)
90% occur sporadically and are commonly unilateral
10% are inherited and these are commonly bilateral
60% female predominance in patients with unilateral
disease.
The left eye is affected in two-thirds of unilateral cases.

5. SYNDROMIC FORMS ( 30%)
Okihiro's syndrome: Duane syndrome and radial ray defects
Wildervanck syndrome (Klippel-Feil anomaly, 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),
Goldenhar syndrome (malformation of the jaw, cheek and
ear, usually on one side of the face).

6. Classification of DRS
Type I, the most common
• Limited or Absent abduction.
• Normal or mildly limited adduction.
• In the primary position, straight or slight esotropia.
A) Straight eyes in the primary position
B) Extremely limited left abduction;
C) Narrowing of the left palpebral fissure on adduction

7. Classification
• Type II, the least common
• Limited Adduction.
• Normal or mildly limited abduction.
• In primary position, straight or slight exotropia.
A) Slight exotropia in the primary position
B) limitation of right abduction with widening of the right
palpebral fissure
C) grossly limited right adduction with narrowing of the
palpebral fissure

8. Classification of DRS
Type III is characterized by:
• Limited Adduction and Abduction.
• In the primary position, straight or slight esotropia.

9. Its characteristics include:
• Complete or partial (less common) absence of abduction
• Widening of palpebral aperture with abduction
• Retraction of globe on adduction
• Narrowing of palpebral fissure during adduction (induced
ptosis)
• Partial deficiency of adduction
• Oblique movement with attempts at adduction
• Upshoot or downshoot of globe with adduction (Leash
Phenomenon)
• Deficiency of convergence

10. • Strabismus: 76% of individuals have frank
strabismus in primary gaze
• Poor Binocular Vision
• Reviews of DRS patients have shown
hypermetropia of greater than +1.50 in 71% of the
patients
• Amblyopia occurs in about 10% of individuals and
will respond to standard therapy if detected early
• Anisometropia

11. showing upshoot and downshoot..

12. Deficiency of convergence, with the affected eye remaining
fixed in the primary position while the other eye is converging

13. Management
Non-Surgical Management
• Spectacles or Contact Lenses can be prescribed to address
refractive error,
• Prism Glasses used to improve compensatory head
position.
• A small study (4 patients) conducted in 2008 found that
injections of botulinum toxin may help to decrease the
amount of deviation and lessen the upshoot or downshoot
of the globe with adduction ("leash phenomenon").
• Amblyopia can be managed with standard therapy.

14. INDICATIONS FOR SURGERY
A patient should be considered for surgical correction
if they have at least one of the following
characteristics:
• an abnormal head position greater than or equal to
15 degrees.
• a significant deviation in the primary position.
• severe induced ptosis: a reduction of greater than
or equal to 50% of the width of the palpebral fissure
on adduction.

15. SURGICAL MANAGEMENT
• Surgery cannot cure Duane retraction syndrome,
• It can correct the deviation in the primary position,
thereby improving a compensatory head position.
• It can also improve the leash phenomenon.
• Unilateral or bilateral medial rectus muscle or lateral rectus
muscle Recession are the procedures of choice.
• In order to improve abduction, transposition of the
superior and inferior rectus muscles (or just the superior
rectus muscle) to the lateral rectus muscle may be
required.

16. Surgical Management
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 Or
Severe Globe Retraction:
Recession Of Both Medial And Lateral Rectus Muscles
With Possible Y-splitting Of The Lateral Rectus Muscle

17. Surgical Management
• For Type 2 With Head Turn And Fixation With
Uninvolved Eye: Recession Of Ipsilateral 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

18. CONTRAINDICATIONS TO SURGERY
• Presence of orthophoria in the primary position,
• Insignificant face turn
• Young age

19. BROWN SYNDROME
Brown syndrome is a condition involving mechanical
restriction, typically, of the superior oblique tendon.
It is usually congenital and most cases are sporadic
in nature but occasionally acquired.
• Vertical strabismus with limited elevation in
adduction
• ~10% bilateral

20. ETIOLOGY AND PATHOPHYSIOLOGY
• Tendon-trochlea complex abnormalities
• Anomalies in the development of the extraocular muscles
nervous system, such as congenital cranial dysinnervation
disorders (CCDDs)
• Fibrotic bands near trochlea in some cases
• Congenital Brown Syndrome is present at birth: painless, non-
inflammatory
• Acquired causes occur after infancy and can be intermittent,
associated or not with pain and a clicking sensation with
superonasal movement of the globe

21. CLASSIFICATION
• Congenital
• Idiopathic.
• ‘Congenital click syndrome’ where there is impaired
movement of the superior oblique tendon through
the trochlea.

22. • Acquired
• Trauma to the trochlea or superior oblique tendon.
• Inflammation of the tendon, which may be caused
by rheumatoid arthritis, pansinusitis or scleritis.
• Types. All have limited elevation in adduction
• Mild No hypotropia in primary position.
No down-shoot in adduction.
• • Moderate No hypotropia in the primary position
Down-shoot in adduction

23. • Severe
• Hypotropia in the primary position.
• Down-shoot in adduction.
• Chin-up head posture.
• Face turn away from the affected eye.

24. A) Limited left elevation in adduction
B)Straight in the primary position
C) Downshoot in adduction

25. Symptoms
• Patients may have a variety of symptoms which may be
constant, intermittent, or recurring, including:
• Vertical diplopia
• Poor binocular vision/stereopsis
• Orbital pain and tenderness
• Pain with eye movement
• Abnormal head position
• A ‘click’ may be heard or felt by the patient with
movement of the eye when attempting to elevate the
eye in AD-duction

26. Signs
The key findings
• Limited or no elevation in adduction.
• V pattern deviation in up gaze,
• eyelid widening in adduction,
• the presence of hypotropia in the primary
position,
• down shoot in adduction.

27. Signs
• In some cases, the down movement of the eye on adduction
may mimic superior oblique overaction with or without
associated IO palsy.
However, in Brown syndrome attempts at straight
upwards elevation cause a V pattern, due to lateral
slippage of the globe due to resistance from a tight
superior oblique tendon.
• In contrast an A-pattern is most likely to be seen in
superior oblique over-action with or without associated
IO palsy.

28. Signs
• A compensatory abnormal head position may also
be present in some cases;
• Patients may adopt a chin up position or a head
turn away from the affected eye (to keep the
affected eye abducted, avoid hypotropia, and
promote binocular fusion)

29. Signs
• Forced duction testing is very useful in the
diagnosis of Brown syndrome, and will demonstrate
restriction to passive elevation in adduction,
accentuated by retropulsion of the globe (which
stretches the superior oblique tendon).
• A tendon cyst or a mass may be palpable in the
superonasal orbital area.

30. Diagnostic Tools
Complete ophthalmic exam
Strabismus measurements in all gaze positions
Forced duction test confirms restriction
Palpation of superonasal orbit may reveal
cyst/mass

31. MANAGEMENT
Depends on symptomatology, etiology, and the course of the
disease.
• Observation and conservative management is preferred
in mild congenital Brown syndrome, as spontaneous
improvement over time (sometimes after many years)
has been described in up to 75% of cases.
• Of note, as patients are most symptomatic on upgaze,
normal growth can decrease symptoms as patients grow
taller and have less necessity for upgaze position.
• Acquired Brown syndrome cases may also undergo
spontaneous resolution, and thus early surgical
intervention is not recommended.

32. MANAGEMENT
• Acquired Cases with associated pain may transiently
benefit from injection of steroids to the trochlear
area. This may require recurrent treatments for
symptomatic relief.
• Systemic steroids and NSAIDs have also been
utilized with variable success.
• Immunosuppressants (i.e. adalimumab) have been
used in refractory cases.

33. Indications for Surgery
• Hypotropia in primary position
• Significant abnormal head position
• Significant diplopia
• Significant downshoot on adduction
• Compromised binocularity
• Significant orbital pain or pain with eye
movements

34. SURGICAL PROCEDURES
• Superior oblique tenectomy or tenotomy. Because this
procedure usually causes a post-operative iatrogenic
superior oblique palsy, it is often combined with an inferior
oblique recession.
• Superior oblique lengthening procedures have been found to
have high success rates and can be performed through a
variety of techniques, including a silicon expander, a non-
absorbable "Chicken suture", or a superior oblique split
tendon elongation procedure.
• Superior oblique tendon thinning
• In case the primary cause is a tendon cyst, removal of the
cyst may be indicated

35. Möbius Syndrome
Möbius syndrome is a rare, usually sporadic, condition,
the basic
components of which are congenital non-progressive
bilateral
sixth and seventh cranial nerve palsies that are believed
to relate
to a developmental abnormality of the brainstem.

36. SYSTEMIC FEATURES
• Bilateral facial palsy, which is usually asymmetrical and
often incomplete, giving rise to an expressionless facial
appearance and problems with eyelid closure
• The fifth, eighth, tenth and twelfth cranial nerves may
also be affected.
• Limb anomalies and mild mental handicap may be
present.

37. Ocular Features
• Bilateral sixth nerve palsy.
• Horizontal gaze palsy (50%).
• Occasionally,
3rd
and 4th
nerve palsy and ptosis.

38. Signs and symptoms..
• Secondary to CN VI and VII damage, Möbius syndrome
presents with “mask-like facies“
• Paralytic ectropion and lagophthalmos
• Other associated defects include limb deformities such
as clubfoot, ectrodactyly, brachydactyly, syndactyly,
and congenital amputations.
• Epicanthic folds, ptosis, external ear defects, tongue
atrophy, micrognathia, high-arch hypoglossia, cleft
palate, cleft lip, and velopharyngeal insufficiency.

39. •Management
• There is no cure for Möbius syndrome.
• Eye dryness and low blinking rate can be managed by
early temporary tarsorraphy.
• Ectropion repair, midface lifting, and eyelid retraction
repair may also be beneficial.

40. Management
• For strabismus, medial rectus muscle recession has
been performed, as well as vertical rectus muscle
transposition. Because of inconsistent results, surgical
options should be explored conservatively.
• Multidisciplinary Approach ; Speech
Therapy ,Occupational Therapy and Behavioral Therapy
to aid in interpersonal communication

41. Monocular Elevation Deficiency
Monocular elevation deficiency (MED), formerly double
elevator palsy, is a rare sporadic condition.
• It is thought to manifest primarily with a tight or
contracted inferior rectus muscle or a hypoplastic or
ineffective superior rectus muscle.
• Limitation of elevation of the affected eye that is similar in
both adduction and abduction. It is one of the causes of
hypotropia and can be associated with
ptosis/pseudoptosis.
• Chin elevation may be present.

42. Etiology - Congenital
Sporadic Occurrence
Causes:
• Supranuclear palsy
• Primary superior rectus paresis
• Primary inferior rectus restriction

43. Etiology - Acquired
• - Trauma
• - Cerebrovascular disease (hypertension,
thromboembolism)
• - Sarcoidosis, syphilis
• - Tumors (pineocytomas, acoustic neuromas,
metastases)

44. Extraocular movements in nine gazes
in a patient of monocular elevation
deficit

45. A)Defective elevation in abduction
B) in upgaze
C) in adduction

46. PATHOLOGY
Three types :
1. inferior rectus restriction
2. deficient innervation of the elevator muscles
3. a combination of restriction and elevator deficit

47. Type 1
• In Type 1, the etiology is inferior rectus restriction,
such as primary inferior rectus restriction or
fibrosis.
• FDT demonstrates a tight inferior rectus. Positive
• The upward saccades are usually normal until the
tight inferior rectus limits up gaze .
• Bell's phenomenon is usually poor

48. Type 2
• In Type 2, deficient innervation of the elevator muscles,
and includes primary superior rectus palsy.
• FDT is free (no mechanical restriction)
• Slow upward saccades.
• Bell’s phenomenon is usually absent

49. Type 3
• In Type 3, supranuclear type and is usually
congenital.
• It is characterized by intact or mildly reduced vertical
saccadic velocity below midline but abnormal or
absent velocity above midline.
• FDT is unlimited.(no tightness or restriction of the IF)
When the examiner can freely move the eye upward
during the test

50. Patients can present with the following
complaints
• Vertical misalignment of the eyes
• Diplopia
• Abnormal head posture
• Inability to elevate the affected eye
• Drooping of eyelid
• Decreased vision

51. Key Signs
Ptosis/Pseudoptosis: Ptosis can be associated with hypotropia
because of fascial attachments between the levator palpebrae
superioris and superior rectus muscle.
Pseudoptosis can be present in primary gaze when fixating with the
contralateral eye, however improves when the hypotropic eye takes
up fixation. Both pseudoptosis and true ptosis can be present in the
patient.
Strabismus: Hypotropia of the affected eye when the
unaffected eye is fixing & Hypertropia of the contralateral eye
when fixating with the affected eye.
Bell’s phenomenon: Absent in cases of inferior rectus
restriction & superior rectus palsy, but is usually Present in
cases resulting from supranuclear defects.

52. Amblyopia: may be present if there is a constant deviation
of affected eye, ptosis, or anisometropia.
Abnormal Head Posture : Most commonly the patient has a
chin elevation if binocular fusion is present. Abnormal head
posture may not be present if the affected eye is amblyopic.
Saccades: Upward saccades are slow in cases of superior
rectus palsy. Absent above the midline in supranuclear
palsy, Intact but Stop abruptly in cases with
inferior rectus restriction

53. Diagnostic Procedures
• Forced Duction Test: a clinical test to evaluate for
restriction. The test is performed under topical or
general anesthesia. The conjunctiva is held at limbus
with forceps and the globe is rotated by the examiner.
• Active Force Generation Test : Done under topical
anesthesia by asking the patient to look in the direction
of the muscle being tested.
• Worth Four Dot : Done with red and green glasses (red
over the right eye) to dissociate the images from each
eye. The test is performed at distance and near.

54. Management
Non-Surgical:
Treat Amblyopia,
Refractive Correction

55. Surgical Indications
• Significant vertical deviation in primary gaze
• Significant abnormal head posture
• Deviation-induced amblyopia
• Diplopia in primary gaze
• Restricted binocular fields

56. Surgical Options - Based on FDT
• The goal of surgery is to improve the position of the
affected eye in primary gaze and to increase binocular
field of vision
• Positive FDT: Inferior Rectus recession
• Negative FDT: Transposition of the medial and lateral
rectus muscles to the superior rectus muscle
(Knapp’s)

57. Knapp’s Procedure
The medial and lateral rectus muscles are transposed
to the insertion of the superior rectus muscle.
In Knapp’s own study, the procedure showed marked
variability correcting 21-55 PD (average 38 PD)
hypotropia.

58. Modified Knapp’s Procedure
• For cases with an associated horizontal deviation, a partial
tendon Knapp’s procedure has been described.
• In this procedure, the superior halves of the equally divided
horizontal muscles are placed near the superior rectus muscle
insertion, which allows for correction of the horizontal deviation
with the inferior halves.

59. Modified Nishida's for MED
• A technique that was originally described for 6th
nerve
palsy can be used to correct up to 30 PD of vertical
deviation with low risk of anterior segment ischemia.
• Contralateral Superior Rectus recession
• Contralateral superior rectus recession may be an
option in patients with residual hypotropia after
inferior rectus recession.
• Ptosis can be addressed after the vertical deviation
has been corrected to ensure the pseudoptosis
element has been eliminated.

60. COMPLICATIONS
• Overcorrection and under correction
• Tenon's prolapse
• Conjunctival cyst
• Corneal dellen formation
• Anterior segment ischemia

61. MCQs

62. • A 7-year-old girl presents with limited abduction and
narrowing of the palpebral fissure on attempted
adduction of the left eye. There is globe retraction and
upshoot on adduction. No significant refractive error or
systemic abnormality is noted. Which of the following is
the most likely diagnosis?
A. Brown syndrome
B. Congenital sixth nerve palsy
C. Duane retraction syndrome type I
D. Duane retraction syndrome type III
E. Moebius syndrome

63. • A 7-year-old girl presents with limited abduction and
narrowing of the palpebral fissure on attempted adduction
of the left eye. There is globe retraction and upshoot on
adduction. No significant refractive error or systemic
abnormality is noted. Which of the following is the most
likely diagnosis?
A. Brown syndrome
B. Congenital sixth nerve palsy
C. Duane retraction syndrome type I
D. Duane retraction syndrome type III
E. Moebius syndrome
Ref: American Academy of Ophthalmology. Basic and Clinical Science Course (BCSC), Section 6: Pediatric Ophthalmology and Strabismus,
2023–2024 edition, Chapter 8: Duane Retraction Syndrome, pp. 203–206.

64. • A 10-year-old child with long-standing hypotropia is
diagnosed with monocular elevation deficiency
(MED). Forced duction testing shows significant
restriction to elevation in adduction and primary
gaze. Which of the following is the most appropriate
initial surgical approach?
A. Botulinum toxin injection to the inferior rectus
B. Inferior oblique anterior transposition
C. Inferior rectus recession of the affected eye
D. Knapp procedure
E. Superior rectus resection of the affected eye

65. • A 10-year-old child with long-standing hypotropia is
diagnosed with monocular elevation deficiency (MED).
Forced duction testing shows significant restriction to
elevation in adduction and primary gaze. Which of the
following is the most appropriate initial surgical
approach?
A. Botulinum toxin injection to the inferior rectus
B. Inferior oblique anterior transposition
C. Inferior rectus recession of the affected eye
D. Knapp procedure
E. Superior rectus resection of the affected eye
American Academy of Ophthalmology. Basic and Clinical Science Course (BCSC), Section 6: Pediatric Ophthalmology and
Strabismus, 2023–2024 edition, Chapter 9: Disorders of Elevation, pp. 219–223

66. Thank You