Download Report from first consulting doctor

Abstract
This case presents the diagnosis and management of a patient with
congenital superior oblique palsy (CSOP) with possible hereditery etiology.
First Author: Tamara Petrosyan, OD
Northport VAMC
Northport, NY 11768
Second Author: Theresa Lonsky, OD
Northport VAMC
Northport, NY 11768
Third Author: Adam C. Deutscher, OD
University Optometric Center
New York, NY 10036
Introduction
Congenital superior oblique muscle palsy (CSOP) is a common cause of vertical strabismus
with torticollis and accounts for a large percentage of all patients with isolated cranial nerve
weakness1. The clinical features of CSOP include hypertropia in primary gaze which increases
with adduction and downgaze, head tilt toward the non paralyzed side, a positive ParksBielschowsky three-step, and large vertical fusional amplitudes2. Congenital palsies can be
differentiated from the acquired form by patient history and clinical presentation3. The etiology
of congenital superior oblique muscle palsy remains speculative. Possible causes include
hypoplasia of the trochlear nucleus or fascicle, nerve injury, and anatomic defects of the
superior oblique tendon or the trochlea4. On rare occasions, reports of familial CSOP with
autosomal dominant transmission patterns have been made5. Recent studies indicate that CSOP
could be attributed to a genetic abnormality in the ARIX gene involved in the development of
the oculomotor and trochlear nerve in mice and zebrafish6. This case presents a possible
discovery of a family with familial superior oblique muscle palsy and discusses the diagnosis
and management of a patient.
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Botelho PJ and Giangiacomo JG: Autosomal-dominant inheritance of congenital superior oblique palsy. Opthalomology (1996) 103: 1508-1511
Imai S, Matsuo T, Itoshima E and Ohtsuki H: Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital
superior oblique muscle palsy. Acta Med Okayama (2008) 62: 45-53
Astle WF and Rosenbaum AL: Familial congenital fourth cranial nerve palsy. Arch Opthalmol (1985) 103: 532-535
Botelho PJ and Giangiacomo JG: Autosomal-dominant inheritance of congenital superior oblique palsy. Opthalomology (1996) 103: 1508-1511
Astle WF and Rosenbaum AL: Familial congenital fourth cranial nerve palsy. Arch Opthalmol (1985) 103: 532-535
Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H and Yasuda T: ARIX and PHOX2B polymorphisms in patients with congenital superior
oblique muscle palsy. Acta Med Okayama (2005) 59: 55-62
Case Presentation
A 24 yo WF (K.Y.) was referred for an evaluation of her binocular diagonal diplopia in all
gazes. She had been getting fusion training for a left inferior
oblique overaction beginning two years prior for a total of 23
office visits, scheduled twice a week for one hour per visit,
with no alleviation of symptoms. The diplopia was first noticed
eight to ten years ago with symptoms progressively worsening.
She reported increasing headaches when reading and inability
to do computer work which is required for her occupation.
Regarding her diplopia, the patient describes the upper image
as “real” and the lower image as “appearing to float.” The
patient presented with a right head tilt and stated that the
diplopia is dampened in inferior and near gaze and worse on
right upgaze and distance. She felt that her right eye was becoming dominant and was very
conscious about her cosmetic appearance. K.Y. reported that both her father and younger sister
suffered from similar symptoms.
The patient reported a recent unremarkable physical and denied trauma, any medications, or
allergies
Her fusional therapy included working on unfused activities, various anaglyph and fixation
activities, and Brock string.
Rx
Posture /
Alignment
Report from first consulting doctor
SCL: -5.25 OD, -5.00 OS
+1.25 OU over CLs for prolonged NV
Convergent strabismus with a vertical component
Distance
7 LHyper
10 Eso
Near
15 LHyper
10 Eso
Report from a second consulting doctor
Our results performed over several visits
Habitual
spectacle Rx:
OD -5.25sph (20/20)
OS -4.50 sph (20/20)
ADD +1.00 (20/20)
Pupils
PERRL - APD
EOM /
Pursuits
Noncomitant EOMs (OS moves up on right gaze)
No restrictions OD or OS
Diplopia lessens in inferior gaze
Poor tracking
Suppression
OD dominant
OS suppression with increased viewing distance
Posture
Distance
CT
10LHT, 6EP
Phoria 7 LH, Iso
ParksBielschowsky
Three-Step
Left Hypertropia → worse on RIGHT gaze → worse on LEFT head tilt
Modified
Thorington
DV: Concomitant LHyper with Eso
NV: Non-concomitant LHyper with Eso, diplopia worse in down and
right gaze
Near
CT 19LHT, 10 EP
Phoria 9LH, 6 Eso
*OS suppression
during range
testing*
Result: Left Superior Oblique palsy
6 Eso
12LH
Distance
6 Eso
12LH
Near
6 Eso
12LH
20 Eso
30 LH
6 Eso
35 LH
15 Eso
30 LH
6 Eso
12LH
6 Eso
12LH
6 Eso
12LH
26 Eso
35 LH
16 Eso
30 LH
20 Eso
18 LH
6 Eso
12LH
6 Eso
12LH
6 Eso
12LH
30 Eso
35 LH
24 Eso
16 LH
18 Eso
19 LH
Extensive prism trial framing showed that she was most comfortable
at distance and near with 6^BU OD and 6^BD OS
K.Y. was given12^ BD Fresnel prism to try for several weeks
After 6^BU OD and 6^BD OS ground into her spectacle Rx
Diagnosis of congenital left superior oblique palsy (not inferior oblique overaction)
was based on the history and the results of cover test, versions, vertical fusional ranges,
Parks-Bielschowsky three-step and Modified Thorington.
Discussion
http://commons.wikimedia.org/wiki/Image:Eyemuscles.jpg
Oblique Muscle Review
Superior Oblique
Inferior Oblique
Depresses on Adduction
Intorts
Abducts
Elevates on Adduction
Extorts
Abducts
Overview of Superior Oblique Muscle Palsy7
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


Binocular diplopia with vertical or diagonal separation of objects, worse on downgaze
and gaze away from side of affected muscle.
Hypertropia, especially on adduction with intortion of elevated eye and head tilted away
from the eye with the palsy.
Most common cause is congenital. The etiology of congenital superior oblique muscle
palsy remains speculative. Congenital palsies can be differentiated from the acquired
form by patient history, clinical presentation, and lack of other inciting factors8.
The clinical features of CSOP include hypertropia on primary gaze which increases with
adduction and downgaze, head tilt toward the non-paralyzed side, a positive ParksBielschowsky three-step, and large vertical fusional amplitudes9.
7 Prieto-Diaz, Julio and Souza-Dias, Carlos. Strabismus. Massachusetts: Butterworth-Heinemann, 2000
8
9
Astle WF and Rosenbaum AL: Familial congenital fourth cranial nerve palsy. Arch Opthalmol (1985) 103: 532-535
Imai S, Matsuo T, Itoshima E and Ohtsuki H: Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital


Possible causes include hypoplasia of the trochlear nucleus, trochlear fascicle, or nerve
injury and anatomic defects of the superior oblique tendon or the trochlea10. Many
congenital cases are first seen as adults who have compensated for many years; these
patients usually have large vertical fusional ranges.
Second most common cause is severe head trauma. Microvasculopathy secondary to
diabetes, atherosclerosis, or hypertension may also cause isolated fourth nerve palsy.
Both of these are important factors to rule out before making a diagnosis of congenital
superior oblique palsy.
Familial Connection
In 1926 Franceschetti was the first to report a hereditary pattern of CSOP and recent research on
this familial occurrence shows that it follows an autosomal dominant mode of inheritance 11.
CFEOM2 is a subtype of congenital fibrosis of the extraocular muscles in which patients have
bilateral ptosis and opthalmoplegia with their eyes partially or completely fixed in an exotropic,
hypertropic or hypotropic position. It is hypothesized that CSOP is a clinically milder variant of
CFEOM type 212. ARIX is a homeobox-containing gene expressed in the brainstem and encodes
a homeodomain transcription factor protein required for oculomotor and trochlear nerve
development in mice and zebrafish. ARIX mutations have been identified as the cause of
CFEOM213. ARIX gene polymorphism has been identified as one of the genetic risk factors for
development of congenital superior oblique muscle palsy14.
Treatment
If the superior oblique palsy is acquired and the cause has been treated, it is usual to wait 6
months for the palsy to resolve by itself before surgery is considered. When the palsy is
congenital or the acquired palsy does not resolve completely after 6 months the superior oblique
muscle palsy is treated by one of several ways.
 Patients with small deviations lacking a torsional component are usually relieved with
vertical prism and fusional therapy, although the efficacy of prism is limited due to
noncomitant deviations.
 Many cases of superior oblique palsy require surgery15. The surgery should be directed to
those muscles whose greatest action is in the field where the vertical deviation is the
largest.
 Deviations < 15 PD require simple muscle surgery while those >15 PD require 2-3
muscle surgeries.
superior oblique muscle palsy. Acta Med Okayama (2008) 62: 45-53
10 Botelho PJ and Giangiacomo JG: Autosomal-dominant inheritance of congenital superior oblique palsy. Opthalomology (1996) 103: 1508-1511
11 Bhola RM, Horne GV, Squirrell DM, Chan TK and Kumar D: Autosomal dominant congenital superior oblique palsy. Eye (2001) 15: 479-484
12 Imai S, Matsuo T, Itoshima E and Ohtsuki H: Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital
superior oblique muscle palsy. Acta Med Okayama (2008) 62: 45-53
13 Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H and Yasuda T: ARIC gene polymorphisms in patients with conenital superior oblique muscle
palsy. Br J Opthalmol (2004) 88:263-267
14 Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H and Yasuda T: ARIX and PHOX2B polymorphisms in patients with congenital superior
oblique muscle palsy. Acta Med Okayama (2005) 59: 55-62
15 Americal Association for Pediatric Opthalmology and Strabismus. 2005. Superior Oblique Palsy.
<http://www.aapos.org/displaycommon.cfm?an=1&subarticlenbr=226> (accessed 7.19.2008)
 If an inferior oblique overaction is present then an inferior oblique myectomy or
recession is performed.
 For a superior oblique laxity (often in congenital cases) a superior oblique tendon tuck is
done.
 If the deviation is greatest in downgaze (and there is no evidence of superior rectus
restriction or superior oblique laxity), then the contralateral inferior rectus is recessed.
 Botulinum neurotoxin can be used to temporarily delay or avoid further surgery or to
correct a residual deviation after surgery, it is not recommended as a primary therapy.
In cases of diplopia, it is critical to isolate the affected
muscle before any treatment can be initiated, the
process of which has been reviewed. Although it was
shown that therapy alone was not sufficient to relieve
the symptoms of the CSOP, in the case of K.Y., a
successful course of prism and fusion therapy relieved
her symptoms without the need for surgery. K.Y. is
currently finishing a very successful course of fusional
therapy; 12^ BD OS split between the eyes allowed an
increase in ease of fusion and single vision in all gazes
and relief in her head turn of which she was very
conscious. Due to the likely genetic etiology of this
palsy, as per family history, we educated the patient about ARIX mutations and she will be
considering genetic testing in the future before starting a family.