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![• CPEO tends to begin in young adulthood
• Ptosis usually is the first clinical sign, which is bilateral &
symmetrical
• As the ptosis progresses, the patient may use the frontalis
muscle to elevate the eyelids and adopt a chin-up head
position
• External ophthalmoplegia is also typically symmetrical
• It is characterized by a progressive course without
remission or exacerbation.
• Initially upgaze is involved subsequently lateral gaze is
affected
• Because of symmetrical loss of eye movements there is
no diplopia [differentiating feature from Myasthenia Gravis]
February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 60
CLINICAL FEATURES of CPEO](https://image.slidesharecdn.com/musculofacialanomalies-160520121333/85/Musculofacial-anomalies-Ocular-Myopathies-60-320.jpg)
![• CPEO tends to begin in young adulthood
• Ptosis usually is the first clinical sign, which is bilateral &
symmetrical
• As the ptosis progresses, the patient may use the frontalis
muscle to elevate the eyelids and adopt a chin-up head
position
• External ophthalmoplegia is also typically symmetrical
• It is characterized by a progressive course without
remission or exacerbation.
• Initially upgaze is involved subsequently lateral gaze is
affected
• Because of symmetrical loss of eye movements there is
no diplopia [differentiating feature from Myasthenia Gravis]
February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 60
CLINICAL FEATURES of CPEO](https://image.slidesharecdn.com/musculofacialanomalies-160520121333/75/Musculofacial-anomalies-Ocular-Myopathies-60-2048.jpg)
Uploaded byDevanshu Arora
Musculofacial anomalies & Ocular Myopathies
The document discusses various congenital cranial dysinnervation disorders (CCDDs) that cause errors in ocular and facial muscle innervation, including Duane Retraction Syndrome (DRS) and Brown Syndrome. DRS is caused by abnormal innervation of the lateral rectus muscle by the oculomotor nerve, resulting in globe retraction on attempted adduction. Brown Syndrome is caused by restriction of the superior oblique tendon at the trochlear pulley, limiting elevation in adduction. The document reviews the anatomy, physiology, clinical features, types, associations, and management of these CCDDs.
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Musculofacial anomalies & Ocular Myopathies
- 1. MUSCULOFACIAL ANOMALIES Moderator- Dr. (Prof)M. I. MAGDUM Presenter- Dr. Devanshu Arora February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 1
- 2. INTRODUCTION • MUSCULOFACIAL ANOMALIESrefers to a group of congenital disorders in which there are errors in the innervation of Ocular & Facial muscles. • These conditions are now referred to as- CONGENITAL CRANIAL DYSINNERVATION DISORDERS February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 2
- 3. OVERVIEW 1. Relevant Anatomy& Physiology 2. Musculofacial Anomalies (congenital cranial dysinnervation disorders): • Duane Retraction Syndrome • Brown Syndrome • Congenital Fibrosis of Extraocular Muscles • Mobius Syndrome • Marcus Gunn Jaw-winking Syndrome 3. Ocular Myopathies: • Myasthenia Gravis • Myotonic Dystrophy • Chronic Progressive External Ophthalmoplegia • Lambert-Eaton Myasthenic Syndrome February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 3
- 4. ANATOMY OF EXTRAOCULARMUSCLES • Visual axis (line of vision) is the line passing from the fovea, through the nodal point of the eye, which is located at the posterior capsule of the lens, to the point of fixation (object of regard). • Anatomical axis (Optic Axis) is a line passing from the posterior pole through the centre of the cornea. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 4 • Primary Position of Gaze: When the eye is looking straight ahead at a fixed point on the horizon with the head erect. In this position the visual axis forms an angle of 23° with the orbital axis
- 5. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 5
- 6. MUSCLE ORIGIN INSERTIONINNERVATION MEDIAL RECTUS Annulus of Zinn 5.5 mm behind medial limbus Cranial Nerve III LATERAL RECTUS Annulus of Zinn 6.9 mm behind lateral limbus Cranial Nerve VI SUPERIOR RECTUS Annulus of Zinn 7.7 mm behind superior limbus Cranial Nerve III INFERIOR RECTUS Annulus of Zinn 6.5mm behind inferior limbus Cranial Nerve III SUPERIOR OBLIQUE Orbital apex above the Annulus of Zinn Posterior Upper temporal quadrant of Globe Cranial Nerve IV INFERIOR OBLIQUE Anteriorly from orbital wall lateral to lacrimal fossa Posterior Lower temporal quadrant of Globe Cranial Nerve III LEVATOR PALPEBRAE SUPERIORIS (LPS) Orbital apex above the Annulus of Zinn Skin of the upper eyelid & superior tarsal Plate Cranial Nerve III February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 6
- 7. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 7 MUSCLE PRIMARY ACTION SUBSIDIARY ACTION Medial Rectus Adduction -- Lateral Rectus Abduction -- Superior Rectus Elevation (best when eye is in abducted position) Intorsion & Adduction Inferior Rectus Depression (best when eye is in abducted position) Extorsion & Adduction Superior Oblique Intorsion Depression (best when eye is in adducted position) & Abduction Inferior Oblique Extorsion Elevation (best when eye is in adducted position) & Abduction ACTIONS OF EXTRAOCULAR MUSCLES
- 8. • Agonist–antagonist pairsare muscles of the same eye that move the eye in opposite directions. The agonist is the primary muscle moving the eye in a given direction. The antagonist acts in the opposite direction to the agonist. • Sherrington law of reciprocal innervation states that increased innervation to an extraocular muscle is accompanied by a reciprocal decrease in innervation to its antagonist. For example- As the right eye abducts, the Right Lateral Rectus muscle receives innervation & contracts while the Right Medial Rectus receives decreased innervation & automatically relaxes. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 8 EXTRAOCULAR MUSCLE PHYSIOLOGY
- 9. • Yoke Muscles:2 Muscles (1 in each eye) that are the prime movers of their respective eyes in a given position of gaze For Example- when the eyes move into right gaze (dextroversion), the right lateral rectus muscle & the left medial rectus muscle are yoke muscles. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 9
- 10. • Hering Lawof Equal Innervation states that during any conjugate eye movement, equal and simultaneous innervation flows to the yoke muscles concerned with the desired direction of gaze. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 10
- 11. CONGENITAL CRANIAL DYSINNERVATION DISORDERS A numberof well defined syndromes characterized by congenital limitation of eye movements were found to be resulting from aberrant innervation of the ocular & facial musculature. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 11
- 12. DUANE RETRACTION SYNDROME (DRS) •Duane’s Syndrome also known as Stilling-Turk syndrome • Congenital non progressive ocular motility defect • There are Type I,II & III – the common characteristic feature being retraction of the globe on adduction or attempted adduction. • There is limitation or total absence of abduction & partial restriction of adduction may also be present February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 12
- 13. • Most casesare sporadic but 5%-10% show Autosomal Dominant Inheritance • There is failure of innervation of the Lateral Rectus by the 6th nerve, with anomalous innervation of the lateral rectus by fibers from the 3rd nerve • Anatomical and imaging studies have shown that in most cases there is aplasia of the sixth cranial nerve nucleus, and an aberrant branch of oculomotor nerve has innervated the lateral rectus. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 13 PATHOGENESIS of Duane’s Syndrome
- 14. • So onattempted adduction because of innervation by the oculomotor nerve there is co-contraction of the medial & lateral recti (referred to as synkinesis phenomenon) which results in retraction of the globe. • Additionally, an association of DRS is seen with Marcus Gunn jaw-winking, also a synkinesis phenomena (which occurs due to aberrant trigeminal nerve innervation of levator palpebrae superioris) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 14
- 15. • Usually Unilateral •About 15% case are Bilateral (in which also one side involvement is usually subtle) • In Primary Position the eyes look straight or there may be slight Eso or Exotropia depending on the type, but Binocular Single Vision is usually maintained. • A Face turn is often noted which the patient uses for their lateral rectus weakness to allow them to use both eyes together • Restricted Abduction (complete or partial) • Restricted Adduction (usually partial) • Retraction of the Globe on adduction Narrowing of palpebral fissure February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 15 CLINICAL FEATURES of Duane’s Syndrome
- 16. • An up-shootor down-shoot in adduction may be present. • It has been suggested that this is a ‘Leash’ phenomenon, that because of co-contraction of medial & lateral rectus, the tight lateral rectus muscle slips over or under the globe and produces an anomalous vertical movement of the eye. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 16
- 17. • Type I, the most common, is characterized by: Marked restriction or total absence of abduction Normal or mildly limited adduction In the primary position, straight or slight esotropia • Type II, the least common, is characterized by: Limitation of adduction Normal or mildly limited abduction In primary position, straight or slight exotropia • Type III, is characterized by: Limited adduction and abduction. In the primary position, straight, slight esotropia or slight exotropia February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 17 TYPES OF DRS: HUBER CLASSIFICATION
- 18. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 18
- 19. • Associated OcularAnomalies- Pupillary abnormalities (anisocoria), Cataract, Choroidal colobomas • Non Ocular Anomalies- Perceptive Deafness with associated speech disorders Cervical spina bifida Goldenhar’s Syndrome (hemifacial microsomia, ocular dermoids, ear anomalies, preauricular skin tags & upper eyelid colobomas) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 19 ASSOCIATIONS OF DRS
- 20. • Most patientsdo not need surgical intervention • Surgery is reserved for cases with primary position deviations & marked globe retraction or for cosmetic reasons- abnormal head posture • For DRS with esotropia- Recession of Medial Rectus on the involved side has been the most often used procedure • For DRS with exotropia- Recession of Lateral Rectus on the involved side. • Patients with type III DRS, having severe globe retraction may be helped by recession of both medial & lateral rectus muscles which may also help in reducing the vertical excursions. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 20 MANAGEMENT of Duane’s
- 21. BROWN SYNDROME • Describedby Harold W. Brown in 1950 as the Superior Oblique Sheath Syndrome • Characteristic restriction of elevation in adduction that improves in abduction • Caused by restriction of superior oblique tendon at the trochlear pulley. • Usually congenital but occasionally acquired February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 21
- 22. ETIOLOGY of Brown’sSyndrome : 1. Congenital • Idiopathic. • ‘Congenital click syndrome’ where there is impaired movement of the superior oblique tendon through the trochlea. 2. Acquired • Trauma to the trochlea or superior oblique tendon. • Inflammation of the tendon, which may be caused by Systemic Inflammatory Diseases (Rheumatoid arthritis), pan sinusitis or scleritis. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 22
- 23. • Usually sporadic,some cases show Autosomal Dominant Inheritance • In mild forms, eyes are usually straight in primary position & there is no hypotropia • Sever forms show a primary gaze hypotropia, usually accompanied by a chin-up head posture. • Limited elevation in adduction • Limited elevation on upgaze is common • Normal elevation in abduction • Down shoot in adduction may be seen • Positive forced duction test on elevating the globe in adduction is a major sign essential for the Diagnosis February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 23 CLINICAL FEATURES of Brown Syndrome
- 24. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 24
- 25. • How todifferentiate Brown Syndrome from Inferior Oblique Muscle Palsy? Forced duction test is negative (no resistance to elevation in adduction) in Inferior Oblique Palsy No depression on adduction • Orbital Floor fracture: Restriction of elevation not only in adduction, but also in direct elevation in primary gaze February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 25
- 26. • Observation aloneremains the most common form of management • Treatment of the underlying cause is indicated in acquired cases. • Systemic treatment should be started in rheumatoid arthritis or other systemic inflammatory diseases & resolution is observed. Corticosteroids injections can also be injected near the trochlea. • Surgery is indicated in sever cases (having hypotropia & AHP): Superior Oblique Tenontomy is now the procedure of choice February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 26 MANAGEMENT of Brown Syndrome
- 27. CONGENITAL FIBROSIS OF EXTRAOCULARMUSCLES (CFEOM) • Congenital fibrosis Syndrome, is a group of congenital disorders characterized by restriction of the extraocular muscles and replacement of the muscles by fibrous tissue. • It can be unilateral or bilateral, with the bilateral form being more common • The spectrum ranges from isolated fibrosis of a single muscle to B/L involvement of all EOMs • Familial disorder showing AutosomalDominant Inheritance February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 27
- 28. • Congenital fibrosissyndrome has traditionally been considered a primary muscle disorder • Recently, CFEOM has been accepted to be of neurogenic origin similar to that of DRS but involving the III cranial nerve complex. • Co-contraction phenomenon resulting in globe retraction has also been described in patients with CFEOM • But the exact mechanism & cause is unknown February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 28
- 29. • Congenital non-progressivebilateral external ophthalmoplegia • Congenital non-progressive bilateral ptosis • In the primary position each eye is fixed below the horizontal by about 10°. • The hypotropic eye may be secondarily exotropic, esotropic or neutral. • The degree of residual horizontal movement varies from full to absent. • Vertical movements are always severely restricted with inability to elevate the eyes above the horizontal plane. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 29 CLINICAL FEATURES of CFEOM
- 30. • A subsetof cases show unilateral fibrosis with enophthalmos and ptosis • These are non familial • Systemic associations- Mental retardation Facial palsy Dental anomalies Spina bifida Prader-willi syndrome February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 30
- 31. MANAGEMENT of CFEOM: • Surgery is difficult and requires release of the restricted muscles (weakening procedures) • Fibrosis of adjacent tissue may be present as well. • A good surgical result aligns the eyes in primary position, but full ocular movements cannot be restored • Outcome of such surgeries is always unpredictable February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 31
- 32. MÖBIUS SYNDROME • Heterogeneousclinical disorder, which includes congenital facial palsy with impairment of ocular abduction due to sixth nerve palsy • Developmental disorder of the brainstem rather than an isolated cranial nerve disorder • The ocular motility disturbances in Mobius syndrome are frequently bizarre and asymmetrical, resembling more of a congenital fibrosis pattern than cranial nerve palsies • Most cases are sporadic February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 32
- 33. • Neural Imagingstudies have shown: Brain stem hypoplasia in the region of the sixth and the seventh nerve & hypoplasia of extraocular muscles and intraorbital motor nerves February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 33
- 34. • Systemic features: Bilateral facial palsy which is usually asymmetrical giving rise to a mask-like facial expression and problems with lid closure Paresis of the 12th cranial nerves which results in atrophy of the tongue Mild mental handicap Limb & Chest wall anomalies • Ocular features : Horizontal gaze palsy is present in 50% of cases. Bilateral 6th nerve palsy Occasionally 3rd and 4th nerve palsy and ptosis February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 34 CLINICAL FEATURES of Mobius Syndrome
- 35. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 35
- 36. • Non surgicalmanagement- Detection & treatment of amblyopia, corneal exposure & refractive errors • Surgical management- No single surgery useful Medial rectus muscle recession is tried Transposition of vertical recti to insertion of Lateral Rectus described February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 36 MANAGEMENT of Mobius Syndrome
- 37. STRABISMUS FIXUS • Itis a rare congenital anomaly in which both eyes are fixed in either the convergent position caused by fibrous tightening of the Medial Recti (Convergent Strabismus Fixus) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 37
- 38. OR • fibrosis ofboth Lateral Recti (Divergent Strabismus Fixus) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 38
- 39. • No horizontalmovement is possible • Diplopia does not occur because of suppression of image from one eye • Amblyopia also does not develop because the patient tends to use both eyes alternately. TREATMENT OF STRABISMUS FIXUS- • Involves recession of medial recti along with recession of conjunctiva & tenon’s capsule but abduction beyond midline can never be achieved February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 39
- 40. MARCUS GUNN JAW-WINKING SYNDROME •Characterized by a congenital ptosis that includes an associated winking motion of the affected eyelid on the movement of the jaw • Usually unilateral & is a form of synkinetic ptosis. • An aberrant connection appears to exist between the motor branches of the trigeminal nerve (CN V3) innervating the external pterygoid muscle and the fibers of the superior division of the oculomotor nerve (CN III) that innervate the levator superioris muscle of the upper eyelid February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 40
- 41. Signs and Symptomsof Marcus Gunn jaw-winking syndrome: • Mild-to-moderate blepharoptosis, usually unilateral • Synkinetic upper eyelid movement with jaw-winking after one of the following: Mouth opening Jaw movement toward the contralateral side Chewing Sucking Jaw protrusion Clenching teeth together Swallowing • Usually, parents first notice the phenomenon while the baby is bottle-feeding or breastfeeding. • Strabismus- Vertical deviations, usually a hypotropia on the involved side February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 41
- 42. OCULAR MYOPATHIES February 18,2015 Department of Ophthalmology, JNMC, Belagavi 42
- 43. MYASTHENIA GRAVIS • Isa Neuromuscular disorder characterized by weakness & fatigability of skeletal muscles • It is an autoimmune disease in which antibodies mediate damage & destruction of acetyl choline receptors at neuromuscular junction. • Thus there is decrease in the number of available AchRs at the neuromuscular junction although Ach is released normally; leading to failure of generation of Action potential in the muscle fibers. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 43
- 44. • The amountof ACh released per impulse also declines on repeated activity (called presynaptic rundown) resulting in activation of fewer and fewer muscle fibers by successive nerve impulse responsible for FATIGUE • How the autoimmune response in Myasthenia is initiated is not completely understood. However, the thymus appears to play a role. • Thymic tumors are seen in about 10% patients. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 44
- 45. • Affects individualsin all age groups • More common in women specially in their twenties & thirties • Affects men in their fifties & sixties • The cardinal features are weakness and painless fatigability of muscles. The weakness increases on repeated use of the muscle (or exercise) and improves following rest. • Therefore symptoms are worse toward the end of the day & less in the morning after sleep. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 45 CLINICAL FEATURES OF MYASTHENIAGRAVIS
- 46. • The distributionof muscle weakness often has a characteristic pattern, the lid & extraocular muscles being involved early in the course followed by facial weakness & muscles involved in mastication and speech. • Most frequent presentation is with Ptosis & Diplopia • In 85% of patients weakness becomes generalized, affecting the limb muscles as well. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 46
- 47. SIGNS: a. Peripheral- • Weakness,particularly of the arms and proximal muscles of the legs. • Permanent myopathic wasting may occur in long- standing cases. b. Facial- • Lack of expression and Ptosis (myopathic facies) c. Bulbar- • Dysphagia • Dysarthria and • Difficulty in chewing d. Respiratory- rarely respiratory crisis may occur February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 47
- 48. OCULAR FEATURES: 90% patientshave both ptosis & weak extraocular movements a. Ptosis- • Bilateral and frequently asymmetrical • Increases on prolonged upgaze (>30secs) • Cogan Twitch Sign is a brief upshoot of eyelid when the patient looks straight ahead after looking down for several minutes • Positive Ice Test: An Ice pack is placed on the eyelid for 2 minutes which results in an improvement in the severity of ptosis (Cold improves neuromuscular transmission) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 48
- 49. b. Diplopia- • Isfrequently vertical, although any or all of the extraocular muscles may be affected • When myasthenia is limited to ocular muscles and no generalized involvement is present, it is known as Ocular Myasthenia February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 49
- 50. • Serum anti-AChRantibodies levels The presence of anti-AChR antibodies is diagnostic of Myasthenia, but a negative test does not exclude the disease. • Thoracic CT or MRI to detect thymoma • Single-fiber Electromyography (SFEMG) is the latest diagnostic test & the most sensitive investigation. • Edrophonium Test or the Tensilon Test February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 50 INVESTIGATIONS for Myasthenia Gravis
- 51. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 51 EDROPHONIUM TEST: a. Objective baseline measurements are made of the ptosis, or of the diplopia with a Hess test b. Intravenous injection of atropine 0.3 mg is given to minimize muscarinic side-effects c. Intravenous test dose of 0.2 mL (2 mg) edrophonium hydrochloride is given. If definite symptomatic improvement is noted, the test is terminated forthwith d. The remaining 0.8 mL (8 mg) is given after 60 seconds, provided there is no hypersensitivity e. Final measurements/repeat Hess testing are made and the results compared But Edrophonium being ultra short acting, its result lasts only for 5 mins during which the measurements are made
- 52. • Anticholinesterase Medications: Pyridostigminemost commonly used Started at a dose of 30-60mg 3-4 times a day Increased or decreased as per patient’s response • Thymectomy: To remove a thymoma if present Also tried as a treatment in generalized MG • Immunosuppression: Steroids or Azathioprine For refractory cases high dose Cyclophosphamide • Plasmapheresis & • Intravenous Immunoglobulin February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 52 TREATMENT of Myasthenia Gravis
- 53. MYOTONIC DYSTROPHY • Myotoniameans delayed muscular relaxation after cessation of voluntary effort which is the characteristic feature of the disease. • Shows Autosomal Dominant Inheritance • Presentation is in the 3rd–6th decades with weakness of the hands and difficulty in walking. • Successive generations exhibit progressively earlier onset and greater severity of disease (Anticipation) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 53
- 54. Signs- • Peripheral- Difficultyin releasing grip, muscle wasting and weakness. • Central- Mournful facial expression caused by bilateral facial wasting with hollow cheeks, and slurred speech from involvement of the tongue and pharyngeal muscles. • Other- Frontal baldness in males, hypogonadism, mild endocrine abnormalities, cardiomyopathy, pulmonary disease, intellectual deterioration and bone changes February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 54
- 55. Ocular Features- • EarlyOnset Cataract- “Christmas Tree Cataract” • Ptosis • Others- External Ophthalmoplegia, pupillary light-near dissociation, mild pigmentary retinopathy, bilateral optic atrophy and low intraocular pressure February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 55 (because of its resemblance to the coloured lights on a Christmas tree)
- 56. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 56 Myotonic Facies
- 57. CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA •Chronic progressive external ophthalmoplegia (CPEO) is a disorder characterized by slowly progressive paralysis of the extraocular muscles. • Patients usually experience bilateral, symmetrical, progressive ptosis, followed by weakness of the extraocular muscles months to years later • Ciliary and iris muscles are not involved February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 57
- 58. • CPEO isthe most frequent manifestation of mitochondrial myopathies • It may occur in isolation or • In association with certain syndromes like: Kearns–Sayre syndrome & Oculopharyngeal Dystrophy • Mitochondrial DNA encodes for essential components of the respiratory chain. Deletions of various lengths of mtDNA results in defective mitochondrial function. • Extraocular muscles are affected preferentially because their fraction of mitochondrial volume is several times greater than that of other skeletal muscle. February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 58
- 59. • Impaired proteinsynthesis in these mitochondria accounts for the histological hallmark- Ragged Red Fibers • Muscle fibers stained with Gomori trichrome stain show an abnormal accumulation of enlarged mitochondria beneath the sarcolemma giving the unusual appearance February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 59
- 60. • CPEO tendsto begin in young adulthood • Ptosis usually is the first clinical sign, which is bilateral & symmetrical • As the ptosis progresses, the patient may use the frontalis muscle to elevate the eyelids and adopt a chin-up head position • External ophthalmoplegia is also typically symmetrical • It is characterized by a progressive course without remission or exacerbation. • Initially upgaze is involved subsequently lateral gaze is affected • Because of symmetrical loss of eye movements there is no diplopia [differentiating feature from Myasthenia Gravis] February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 60 CLINICAL FEATURES of CPEO
- 61. • Multiorgan SystemDisorder • Triad of Clinical findings: 1. Onset before the age of 20yr 2. Chronic Progressive External Ophthalmoplegia 3. Pigmentary Retinopathy • Plus features like- Complete Heart Block & Cerebellar Ataxia • Other features- Deafness, diabetes, short stature, renal disease and Dementia February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 61 Kearns–Sayre Syndrome
- 62. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 62 Fundus typically shows a ‘salt and pepper’ appearance
- 63. DIAGNOSTIC TESTS- • Lumbarpuncture shows elevation of CSF protein concentration (>1 g/l). • ECG demonstrates cardiac conduction defects February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 63
- 64. • Autosomal DominantInheritance • Weakness of pharyngeal Muscles: causing Dysphagia & • Wasting of temporalis • Ophthalmic features Bilateral Ptosis and Progressive External Ophthalmoplegia February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 64 Oculopharyngeal Dystrophy
- 65. Lambert-Eaton Myasthenic Syndrome •An autoimmune disorder of the neuromuscular junction often associated with underlying, Small Cell Bronchial Carcinoma • Systemic features include gradual difficulty in walking that may precede clinical manifestation of the associated carcinoma by up to two years. • Ophthalmic features are ptosis and diplopia February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 65
- 66. CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA MYASTHENIA GRAVIS LAMBERT-EATON MYASTHENIC SYNDROME FATIGUABILITY No YesNo DIPLOPIA No Yes Yes Other eye signs Pigmentary Retinopathy - - RNS test - Decremental Response Incremental Response February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 66 Differentiation of Conditions Producing Ptosis & Extraocular Muscles Weakness
- 67. February 18, 2015Department of Ophthalmology, JNMC, Belagavi 67
- 68. REFERENCES • Clinical Ophthalmology–ASystematic Approach 7th edition (by Jack J Kanski) • Ophthalmology 4th edition- Yanoff & Duker • Pediatric Ophthalmology & Strabismus (Section 6), American Academy of Ophthalmology(AAO) • Manual Of Squint- Leela Ahuja • Harrison's Principles of Internal Medicine Vol-II (17th Ed) February 18, 2015 Department of Ophthalmology, JNMC, Belagavi 68
Editor's Notes
- #4 Facial Spasm: Essential Blepharospasm & Hemifacial Spasm
- #5 The posterior pole is the central point posteriorly in the geometrical axis of the eye ball. The lateral and medial orbital walls are at an angle of 45° with each other
- #6 The vertical recti run in line with the orbital axis and are inserted in front of the equator. They form an angle of 23° with the optical axis Superior oblique passes forwards through the trochlea at the angle between the superior and medial walls and is then reflected backwards and laterally to insert in the posterior upper temporal quadrant of the globe
- #7 There are 7 Eoms- the 4 recti.. The obliques are inserted posterior to the equator Spiral of Tillaux
- #9 example the right lateral rectus is the antagonist to the right medial rectus fast twitch-generating singly innervated fibers (SIFs) with fine motor unit size (one axon per muscle fiber). This allows for large, rapid, precise movements. are specialized for intense oxidative metabolism, have a larger blood supply, and are fatigue-resistant, allowing for more sustained tension.
- #10 Another example, the yoke muscle of the left superior oblique is the right inferior rectus.
- #11 Hering’s law of motor correspondence
- #12 These were grouped together as-
- #16 … Which leads to
- #18 the common characteristic in all 3 types is retraction of the globe on adduction or attempted adduction.
- #19 Duane’s Retraction Syndrome of the left eye. On attempted adduction of the left eye, Retraction of the globe is noted & narrowing of the Palpebral Fissure & There is limitation of abduction in the left eye
- #21 As binocular single vision is maintained in most cases Full range of ocular movements can never be achieved Patients with type III DRS in which there is poor abduction as well as adduction, often have straight eyes in primary position & require no intervention but
- #23 All these cases lead to superior oblique restriction. Acquired causes usually result in intermittent Brown synd which may resolve spontaneously
- #24 Hypotropia- downward deviation of the visual axis of eye. To check for tightness of the superior oblique muscle the eye is grasped with toothed forceps at the 6- and 9-o’clock positions
- #25 Brown syndrome in left eye. A, The chin is up and pointing to the right(face turn); B, downshoot of the left eye while attempting to look up in the adducted position; C, some limitation of elevation of left eye in upgaze; D, no limitation of elevation of the left eye in abduction
- #27 Hydrocortisone acetate 10 to 25 mg Methylprednisolone acetate Triamcinolone acetate 2 to 10 mg 1 percent lignocaine or 0.25 to 0.5 percent bupivacaine is mixed with a corticosteroid preparation
- #29 And has therefore been included in CONGENITAL CRANIAL DYSINNERVATION DISORDERS
- #30 In the classical form there is..
- #31 low muscle tone, short stature, incomplete sexual development, cognitive decline, and a chronic feeling of hunger that can lead to excessive eating and obesity
- #35 primary position esotropia in Both eyes Gaze palsies attributed to abnormalities in PPRF(Pontine paramedian reticular formation)
- #36 Limb anomalies- absence of the phalanges the esotropia, due to bilateral sixth nerve palsies Mask like face
- #37 Aim of the surgery is to improve abduction
- #44 Cardiac & involuntary muscles not involved
- #48 Due to weakness of respiratory muscles & respiratory assistance will be required for such patients.
- #49 Improvement by atleast 2mm.
- #51 Because in 15-20% patients antibodies are not detectable in the serum abnormal action potential patterns, "jitter" and "blocking," are diagnostic
- #52 Edrophonium is a short-acting anticholinesterase agent which increases the amount of acetylcholine available at the neuromuscular junction. In myasthenia this results in transient improvement of symptoms and signs. The estimated sensitivity is 85% in ocular and 95% in systemic myasthenia. Potential but uncommon complications include bradycardia, loss of consciousness and even death.
- #53 Max dose pyridostigmine= 120mg po 4 times a day For immediate improvement steroids; = start,prednisolone 20mg oraly OD, inc dose upto 100mg/day For long term treatment azathioprine = 1-2mg/kg day. Plasm & IVIg also used for rapid improvement in sever myasthenia. 5 exchanges over 10-14 days ----- Meeting Notes (2/17/15 18:36) ----- ****
- #56 Christmas tree cataract is a diffractive phenomenon There are highly refractile multicoloured 'needles' crisscrossing the lens fibres of the deep cortex
- #57 Myotonic facies, that is- Mournful facial expression & hollow cheeks frontal baldness and left exotropia
- #61 But Reading may be a problem due to inadequate convergence.
- #62 *That may be present
- #63 Because of atrophy of the retinal pigment epithelium
- #65 Serum CK high Biopsy- muscle fibers show rimmed vacuoles
- #66 In LEMS- depressed or absent DTRs RNS- incremental response. It is a paraneoplastic condition.
- #67 Thyroid eye disease- no ptosis, exophthalmos