12 - Special Motility Disorders

Question 1

(Congenital Cranial Dysinnervation Disorders)

Exemples de Congenital Cranial Dysinnervation Disorders

Answer 1

Included in this group are Duane retraction syndrome, congenital fibrosis of the extraocular muscles, Möbius syndrome, and some cases of congenital fourth nerve palsy.
In recent work, congenital Brown syndrome has been postulated to be a form of CCDD.

Question 2

(Duane Retraction Syndrome)

V ou F : Duane retraction syndrome is a spectrum of ocular motility disorders

Answer 2

Vrai. Duane retraction syndrome is a spectrum of ocular motility disorders.

Question 3

(Duane Retraction Syndrome)

Définir le Duane retraction syndrome?

Answer 3

Duane retraction syndrome 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.

Question 4

(Duane Retraction Syndrome)

V ou F : Horizontal eye movement are not limited in both abduction and adduction.

Answer 4

Faux. Horizontal eye movement can be limited to various degrees in both abduction and adduction.

Question 5

(Duane Retraction Syndrome)

Causes expliquant un upshoot ou un downshoot lorsque l’oeil ADD?

Answer 5

• An upshoot or downshoot often occurs when the affected eye is innervated to adduct; vertical slippage of a tight lateral rectus muscle by 1–2 mm, which has been demonstrated by magnetic resonance imaging (MRI) studies, is the typical cause.
• Less commonly, anomalous vertical rectus muscle activity is responsible for upshoots and downshoots.

Question 6

(Duane Retraction Syndrome)

2 syndromes avec atteintes systémiques associés au Duane retraction syndrome?

Answer 6

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

Question 7

(Duane Retraction Syndrome)

Qu’est-ce que le syndrome Goldenhar?

Answer 7

Goldenhar syndrome
* hemifacial microsomia
* ocular dermoids
* ear anomalies
* preauricular skin tags
* eyelid colobomas

Question 8

(Duane Retraction Syndrome)

Qu’est-ce que le syndrome Wildervanck?

Answer 8

Wildervanck syndrome
* sensorineural hearing loss and Klippel- Feil anomaly with fused cervical vertebrae.

Question 9

(Duane Retraction Syndrome)

Rx tératogène associé au Duane retraction syndrome?

Answer 9

Studies of patients with Duane retraction syndrome related to prenatal thalidomide exposure show that the under lying defect in development occurs between the fourth and sixth weeks of gestation.

Question 10

(Duane Retraction Syndrome)

Type d’acquisition/transmission?

Answer 10

Most cases of Duane retraction syndrome are sporadic, but approximately 5%–10% show autosomal dominant inheritance.

Question 11

(Duane Retraction Syndrome)

% de patients avec un autosomal dominant inheritance?

Answer 11

Most cases of Duane retraction syndrome are sporadic, but approximately 5%–10% show autosomal dominant inheritance.

Question 12

(Duane Retraction Syndrome)

Prévalence H versus F?

Answer 12

A higher prevalence in females is reported in most series, and there is a predilection for the left eye.

Question 13

(Duane Retraction Syndrome)

Prévalence OD versus OS?

Answer 13

A higher prevalence in females is reported in most series, and there is a predilection for the left eye.

Question 14

(Duane Retraction Syndrome)

Quelles sont les anomalies innervationnelles associées au Duane retraction syndrome?

Answer 14

• In most anatomical and imaging studies, the nucleus of the sixth cranial nerve is absent or hypoplastic and an aberrant branch of the third cranial nerve innervates the lateral rectus muscle.
• Results of electromyographic studies have been consistent with this finding.

Question 15

(Duane Retraction Syndrome)

Ductions forcées N ou aN dans le Duane retraction syndrome?

Answer 15

Although Duane retraction syndrome is considered an innervational anomaly, tight and broadly inserted medial rectus muscles and fibrotic lateral rectus muscles, with corresponding forced duction abnormalities, are often encountered during surgery.

Question 16

(Duane Retraction Syndrome)

Classification du Duance retraction syndrome?

Answer 16

• Type 1 refers to poor ABDuction, frequently with esotropia in primary position
• Type 2 refers to poor ADDuction and exotropia
• Type 3 refers to poor ABDuction and ADDuction, with esotropia, exotropia, or no primary position deviation

The spectrum of dysinnervation among cases means that classification of patients based on these categories can be arbitrary in some situations, especially in deciding between type 1 and type 3.

Question 17

(Duane Retraction Syndrome)

% de patients avec une atteinte bilatérale?

Answer 17

Approximately 15% of cases are bilateral; the type may differ between the 2 eyes.

Question 18

(Duane Retraction Syndrome)

V ou F : le type de Duane retraction syndrome peut différer entre les deux yeux.

Answer 18

Vrai. Approximately 15% of cases are bilateral; the type may differ between the 2 eyes.

Question 19

(Duane Retraction Syndrome)

Qu’est-ce que le Synergistic divergence dans le Duane retraction syndrome?

Answer 19

• Synergistic divergence is a rare and bizarre motility disturbance that is often classified as a fourth type of Duane syndrome.
• There is usually exotropia, and when the affected eye looks in the direction that should result in adduction, it actually abducts even further— a finding colorfully described as “the ocular splits.”
• Synergistic divergence can be unilateral or bilateral and can be due to biallelic COL25A1 mutations.

Question 20

(Duane Retraction Syndrome)

Most comme form of Duane retraction syndrome?

Answer 20

Type 1 (with esotropia and limited abduction) is the most common form of Duane retraction syndrome, accounting for 50%–80% of cases in several series.

Question 21

(Duane Retraction Syndrome)

Comment différencier un Duane retraction syndrome (type 1) d’un sixth nerve palsy?

Answer 21

• 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.
• Another indicator that the condition is not sixth nerve palsy is the relatively small esotropia in primary position (usually <30 prism diopters [Δ]) in the setting of a severe abduction deficit.
• A further point of differentiation is that even in esotropic Duane retraction syndrome, a small- angle exotropia is sometimes present on gaze to the side opposite that of the affected eye, a finding that does not occur in lateral rectus muscle paralysis.
• 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.

DONC :
* Globe retraction on adduction
* Relatively small esotropia in primary position in the setting of a severe abduction deficit
* Small- angle exotropia is sometimes present on gaze to the side opposite that of the affected eye
* Lorsque yeux ADD, amincissement du faisceau luminaire projeté sur la cornée

Question 22

(Duane Retraction Syndrome)

Vision binoculaire chez patients atteints d’un Duane retraction syndrome?

Answer 22

In many patients with this syndrome, the eyes are properly aligned in at least 1 position of gaze, allowing the development of binocular vision.

Question 23

(Duane Retraction Syndrome)

V ouF : No surgical approach will normalize rotations.

Answer 23

Vrai. No surgical approach will normalize rotations.

Question 24

(Duane Retraction Syndrome)

Indications de chx pour un Duane retraction syndrome?

Answer 24

Surgery is reserved for cases with
* A primary position deviation
* A head turn
* A marked globe retraction
* A large upshoots or downshoots

Question 25

# (Duane Retraction Syndrome) Chx la plus fréquente pour un Duane retraction syndrome : * Type 1? * Type 2? * Type 3?

Answer 25

* Unilateral type 1 Duane retraction syndrome : recession of the medial rectus muscle on the involved side * Type 2 Duane retraction syndrome : recession of the lateral rectus muscle on the involved side * Type 3 Duane retraction syndrome : patients often have straight eyes near the primary position and do not require surgical treatment for their minimal head turn or horizontal strabismus.

Question 26

# (Congenital Fibrosis of the Extraocular Muscles) Définir le CFEOM

Answer 26

Congenital fibrosis of the extraocular muscles (CFEOM), or congenital fibrosis syndrome, is a group of rare congenital disorders in which **EOM restriction** is present and **fibrous tissue replaces these muscles**.

Question 27

# (Congenital Fibrosis of the Extraocular Muscles) Type de transmission

Answer 27

**Some** forms have been noted to be **inherited**, usually as an **autosomal dominant trait** but occasionally in an **autosomal recessive fashion**.

Question 28

# (Congenital Fibrosis of the Extraocular Muscles) Est-ce qu'il y a une atteinte des noyaux des NC ou des NC eux-mêmes dans le CFEOM?

Answer 28

Both Cases of CFEOM involve developmental defects of cranial nerve nuclei and of the nerves themselves, resulting in dysinnervation and abnormal structure of the EOMs.

Question 29

# (Congenital Fibrosis of the Extraocular Muscles) Présentation clinique

Answer 29

Depending upon the type of CFEOM, there may be **various combinations** of * esotropia with limited abduction * exotropia with limited adduction * limited elevation with chin-up head position * ptosis Strabismus fixus involves the horizontal rectus muscles, usually the medial rectus muscles, causing severe esotropia. **Vertical retraction syndrome** affects the superior rectus muscle and causes **inability to depress the eye**. Diagnosis of CFEOM depends on finding limited voluntary motion with restriction, which is usually severe and can be confirmed with forced duction testing.

Question 30

# (Congenital Fibrosis of the Extraocular Muscles) Management du CFEOM

Answer 30

* **Surgery** for CFEOM is **difficult** and requires **release of the restricted muscles** (weakening procedures). * Fibrosis of the adjacent tissues may be present as well. * A good surgical result **aligns the eyes in primary position**, but full ocular rotations cannot be restored and the outcome is unpredictable.

Question 31

# (Möbius Syndrome) Définir le Möbius Syndrome?

Answer 31

Möbius syndrome is a rare condition characterized by the association of both **sixth and seventh nerve palsies**, the latter causing masklike facies. Patients may also manifest gaze palsies that can be attributed to abnormalities in the paramedian pontine reticular formation or the sixth cranial nerve nucleus.

Question 32

# (Möbius Syndrome) V ou F : les patients avec un Möbius Syndrome peuvent avoir des gaze plasies.

Answer 32

Vrai. Patients may also manifest gaze palsies that can be attributed to **abnormalities in the paramedian pontine reticular formation or the sixth cranial nerve nucleus**.

Question 33

# (Möbius Syndrome) Anomalies de quelles régions anatomiques pouvant expliquer des gaze palsies chez les patients avec Möbius Syndrome?

Answer 33

Patients may also manifest gaze palsies that can be attributed to **abnormalities in the paramedian pontine reticular formation or the sixth cranial nerve nucleus**.

Question 34

# (Möbius Syndrome) Manifestations extra-oculaires associées au Möbius Syndrome?

Answer 34

* Many patients also have **limb, chest, and tongue defects**. * Some geneticists believe that Möbius syndrome is one of a family of syndromes in which **hypoplastic limb anomalies may be associated with orofacial and cranial nerve defects**. * Poland syndrome (absent pectoralis muscle) is another variant.

Question 35

# (Möbius Syndrome) Qu'est-ce que le Poland Syndrome?

Answer 35

* Many patients also have limb, chest, and tongue defects. * Some geneticists believe that Möbius syndrome is one of a family of syndromes in which hypoplastic limb anomalies may be associated with orofacial and cranial nerve defects. * **Poland syndrome (absent pectoralis muscle) is another variant.**

Question 36

# (Möbius Syndrome) Patterns of ocular motility involvement associés au Möbius Syndrome? Décrire l'atteinte palpébrale parfois associée?

Answer 36

Patients with Möbius syndrome exhibit 1 of 3 patterns of ocular motility involvement, which are likely related to the severity and timing of the in utero insult: * **Orthotropia** in primary position with marked **deficits in abduction and adduction** (40% of cases) * **Esotropia with cross- fixation** and **sparing of convergence** (50% of cases) * **Large exotropia with absence of convergence** (10% of cases) Some patients appear to have palpebral fissure changes on adduction or vertical EOM involvement.

Question 37

# (Möbius Syndrome) Tx chirurgical?

Answer 37

* **Medial rectus muscle recession** has been advocated for patients with large- angle esotropia, but caution should be exercised in the presence of a significant limitation of adduction. * Some surgeons have endeavored to improve abduction by performing **vertical rectus muscle transposition procedures after medial rectus muscle restriction has been relieved**.

Question 38

# (Brown Syndrome) Principale caractéristique clinique du Brown Syndrome?

Answer 38

Restriction of elevation in adduction

Question 39

# (Brown Syndrome) Cause/Physiopathologie du Brown Syndrome?

Answer 39

Various abnormalities of the tendon– trochlea complex

Question 40

# (Brown Syndrome) V ou F : La majorité des cas sont acquis.

Answer 40

Faux. Most cases are congenital.

Question 41

# (Brown Syndrome) Causes d'un Brown Syndrome acquis?

Answer 41

Prominent causes of the acquired form include * Trauma in the region of the trochlea * Iatrogenic causes such as scleral buckles and tube shunts * Orbital tumors * Systemic inflammatory conditions such as rheumatoid arthritis (often results in intermittent Brown syndrome, which may resolve spontaneously) Sinusitis can also lead to Brown syndrome; thus, patients with acute- onset presentation of Brown syndrome of undetermined cause should undergo imaging of the orbits and paranasal sinuses to investigate this possibility.

Question 42

# (Brown Syndrome) % des patients avec condition bilatérale?

Answer 42

The condition is bilateral in approximately 10% of cases.

Question 43

# (Brown Syndrome) Résolution spontanée du Brown Syndrome?

Answer 43

Resolution of congenital Brown syndrome has been thought to be unusual, but a report by Dawson and colleagues describes **spontaneous improvement in 75% of cases, often after many years**.

Question 44

# (Brown Syndrome) Caractéristiques cliniques

Answer 44

* Deficient elevation in adduction that improves in abduction but often not completely. * Positive forced duction test : restricted passive elevation in adduction (essential for the diagnosis) * Attempts at elevation straight upward usually cause divergence (V pattern) * Palpebral fissure widens and overdepression in adduction can be observed in severe cases of Brown syndrome * In mild Brown syndrome, no hypotropia is present in primary position. * Severe cases of Brown syndrome with a primary position hypotropia are often accompanied by a chin-up head position or a head turn away from the side of the affected eye

Question 45

# (Brown Syndrome) Tx pour les mild congenital Brown syndrome?

Answer 45

**Observation** alone is appropriate for mild congenital Brown syndrome.

Question 46

# (Brown Syndrome) Évolution/Px du Brown Syndrome lorsqu'associé à arthrite rhumatoïde ou autres mx inflammatoires systémiques?

Answer 46

When Brown syndrome is secondary to rheumatoid arthritis or other systemic inflammatory diseases, **resolution may occur** as systemic treatment brings the under lying disease into remission or when corticosteroids are injected near the trochlea.

Question 47

# (Brown Syndrome) Indication de chx? Types de chx?

Answer 47

* Surgery is indicated for more severe congenital cases. * Superior oblique tenotomy nasal to the superior rectus muscle is definitive treatment (ES possible : iatrogenic superior oblique muscle paresis) * To reduce the consequences of superior oblique muscle palsy after tenotomy, some surgeons perform simultaneous ipsilateral inferior oblique muscle weakening. * Other current options include insertion of an inert spacer or suture between the cut ends of the superior oblique tendon, and split- tendon lengthening of the tendon.