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Short Reports

A Child With Multiple Absent ExtraoculMuscl

Jane Hart, DBO,a Anthony G. Quinn, FRANZCO, FRCOphth, DCH,a and

David Taylor, FRCS, FRCP, FRCOphthb

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We report on a child with congenital absmultiple extraocular muscles, left ptosis, dmental delay, and weakness of the left adiscuss the potential management of this chpresumed bilateral third nerve palsies, parwith reference to strabismus surgery andsegment ischemia.

CASE REPORT

A male baby initially presented at 8 weeks olhistory of a bilateral, large angle (approximatelgrees), constant exotropia since birth. His parnoted that his eyes never moved from their dposition and they were concerned about possibimpairment. The pregnancy and full-term, vaginery were normal. An amniocentesis was performepregnancy, and chromosome analysis was norfather had a congenital color vision deficiency bwas no other family history of note.

He presented to our department at 11½ monthon examination his vision was 6/620 binocularly wler preferential looking. His vision was difficultdue to his age, and we were using forced choicetial viewing tests. We had to look for head movfixation instead of eye movement. At 16 monthuniocular visions were RE 6/76 and LE 6/96 witcards at 50 cm. Pupillary reactions to a light werwith no afferent pupil defect. He had a marked eboth eyes were fixed in extreme abduction and wadduct at all. There was fine manifest right beaoccasionally rotary nystagmus with both eyes opebecame worse in the left eye when fixing witheye. No ocular movements were demonstrableeye using active rotation of the head to induce vsystem generated eye movements (“Doll’s head ements”). His pupils reacted normally to light. He

From the aWest of England Eye Unit, Royal Devon and Exeter NHS HeaExeter, Devon EX2 5DW, United Kingdom; and bDepartment of OphthalOrmond Street Hospital for Children NHS Trust, London, WC1N 3JH, UnSubmitted December 16, 2003.Revision accepted October 21, 2004.Reprint requests: Miss Jane Hart, Orthoptic Department, West of EnglaRD�E NHS Healthcare Trust, Exeter EX2 5DW, UKJ AAPOS 2005;9:57-60.Copyright © 2005 by the American Association for Pediatric OphthStrabismus.1091-8531/2005/$35.00 � 0

doi:10.1016/j.jaapos.2004.10.008

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upper lid ptosis with a visible skin crease in bolids. The interpalpebral apertures measured 6 mmright and 4 mm for the left, although this did varyalertness (Figure 1). There was a right fixation pwith a large face turn to the left. This fixation pmay have been partly due to this inability to fixleft eye unless the left lid was lifted.

On cycloplegic refraction he was hypermetropeyes (�6.0D retinoscopy right and left). His righta small cup and the left showed mild pallor andcup with an irregular outer border.

The fundi were otherwise normal.The electroretinogram showed normal retinal r

Independent flash visual evoked potentials (VEP)similar size with either eye, with a latency withilimits for his age. Pattern reversal VEPs were dbroadened, and better seen with larger check sizes. Tpattern reversal VEP appeared to be better than ththe VEP was reported as suggesting a poor-to-modeof vision.

A magnetic resonance imaging scan showedbrain with some focal enlargement in the righthorn of the lateral ventricle anteriorly, which wasto be of no significance. There was a lack of exmuscles with only the lateral rectus being presentleft (Figure 2). The lateral rectus muscles lookeon the MRI scan. There was a structure that appethe superior ophthalmic vein on the right and lefsuperior rectus muscle (Figures 3 and 4).

Surgical exploration of the left temporal scperformed to confirm the MRI scan. Following inthe conjunctiva and Tenon’s capsule, no latercould be identified with exploration extending tfrom the temporal limbus. No forced ductionbeen performed at this time.

The fact that there was no marked right ptosupper lid skin crease suggests that some of thcomplex was present on the right. Although theupper skin crease on the left, ptosis was alsosuggesting a deficient levator complex.

A carotid angiogram was performed to investblood supply to the globe in the absence of exmuscles. It was found that the ophthalmic arunusual in that it appeared to run without majorto the superior aspect of the eye and then bifur

rust,reat

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the globe.

February 2005 57

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Journal of AAPOSVolume 9 Number 1 February 200558 Hart, Quinn, and Taylor

A superselective angiogram was suggested tomore detailed view of the blood supply to the gbecause the risks of this procedure on such a youare significant, the procedure, and the question omus surgery, has been deferred.

He had occlusion with an adhesive patch toeye, for 1 hour daily with his parents lifting the leWith occlusion, the right vision improved over t6/76 to 6/38, and the left vision improved from6/76 testing with a forced choice preferential loo

He had a posterior approach levator tuck procthe left ptosis. The operation was initially succefollowing a wound infection postoperatively, thetion returned to its preoperative position.months later he had an anterior levator resectioresidual left ptosis, which improved the left uposition so that he now fixates with the left eyeHe still prefers to fix with the right eye.

DISCUSSION

Correcting strabismus which is due to a lack of ex

FIG 1. Marked divergence of either eye and left upperHead posture not seen because patient’s head is heldface.

muscles presents a major challenge to the surgeon. Tiss

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such as palmaris longus, fascia lata, temporalisperiorbital flap have all been used to anchor thethe periosteum but produce a strabismus fixus.1,2

sis.full

FIG 2. Axial view MRI scan (inversion recovery of 145 mishowing what appears to be a lateral rectus muscle in eadivergent position of eyes.

FIG 3. T1 Coronal view MRI scan showing lateral rectus mwhat appears to be the superior ophthalmic vein, right a

ues muscle prosthesis” has also been reported as being used for

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Journal of AAPOSVolume 9 Number 1 February 2005 Hart, Quinn, and Taylor 59

absent muscles.3 A further possibility describedto move the lateral rectus under the superior reinsert it near the upper border of the medial rhangback sutures.4 This child appears to havelated” strabismus fixus due to the severe hypoextraocular muscles and surgery would be unlikeprove his ability to move his eyes. Surgery mayhis field of vision temporally since the lateral canobstruct this at present due to the large exotaddition, surgery may improve his compensatposture.

The anterior ciliary vessel of the lateral rectumay contribute significantly to the anterior segmesupply, and recessing or transposing the lateral reput this blood supply at risk. Vessel-sparing surbeen advocated in similar circumstances but is nsuccessful at maintaining perfusion.5-9

He has significant hypermetropia, with a retino�6.0, which puts him at risk of amblyopia. So facles have not been prescribed due to difficultiessitioning the lenses in relation to the visualspeculated that due to the extreme abduction ofcontact lenses would probably decenter.

This patient’s problems may represent bilat

FIG 4. T1 Coronal view MRI scan showing lateral rectus mwhat appears to be the superior ophthalmic vein, right a

genital 3rd nerve palsy with muscle hypoplasia or apla

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The development of the third, fourth, and sixtnerves occur at around the 4th to 8th week of gesthe same time as the extraocular muscles are deThe SR is the first to appear followed by the otcles. There have been many previous reportsabsent extraocular muscles.10-18 However reportsthan one muscle absent are mainly mentioned ifacial dysostoses.19-21 The presence of normalfunction implies there is at least some third nervfunction present.

Another possible explanation is that the ptosisof extraocular muscles represents another disordthe spectrum of congenital cranial dysinervation dwith deficient development of the affected cranior muscles in the embryo.22 This has been reprelation to Duane’s retraction syndrome where pical reports have confirmed no trace of the sixtnerve along its route.23

Although this child does not have Duane’s retracdrome, a similar teratogenic event during the seconof gestation may have occurred causing the absentraocular muscles and possible lack of nerves. Unfowe are unable to confirm the absence of cranial ne

The authors thank Dr Dorothy Thompson and colleagues fing the neurophysiological studies, and V.T. Thaller and N. ERoyal Eye Infirmary, Plymouth for additional clinical inform

References1. Salazar-Leon JA, Ramirez-Ortiz MA, Vargas M. The su

rection of paralytic strabismus using fascia lata. J Pediatr OStrabismus 1998;35:27-32.

2. Collins CC, Jampolsky A, Scott AB. Artificial muscle forimplantation (abstract). Invest Ophthalmol Vis Sci 1985

3. Scott AB, Miller JM, Collins CC. Eye muscle prosthesiOphthalmol Strabismus 1992;29:216-8.

4. Morad Y, Nemet P. Medial transposition of the lateral rein combined third and fourth nerve palsy. J AAPOS 200

5. Murdock TJ, Mills MD. Anterior segment ischemia aftersurgery with microvascular dissection. J AAPOS 2000;4:

6. Freeman HL, Waltman DD, Patterson JH. Preservationciliary vessels during strabismus surgery: a non-microsnique. J Pediatr Ophthalmol Strabismus 1992;29:38-43.

7. Girand LJ, Beltranena F. Early and late complications omuscle surgery. Arch Ophthalmol 1960;64:576-84.

8. Vila-Coro AA. Vascular microdissection in strabismus suOphthalmol 1990;108:1034-6.

9. McKeown CA, Lambert HM, Shore JW. Preservation orior ciliary vessels during extraocular muscle surgery. Oogy 1989;96:498-505.

10. Sandall GS, Morrison JW Jr. Congenital absence of lamuscle. J Pediatr Ophthalmol Strabismus 1979;16:35-9.

11. Taylor RH, Kraft SP. Aplasia of the inferior rectus mureport and review of the literature. Ophthalmology3;415-8.

12. Ingham PN, McGovern ST, Crompton JL. Congenitalthe inferior rectus muscle. Aust NZ J Ophthalmol 1986

13. Munoz M. Congenital absence of the inferior rectus mOphthalmol 1996;121:327-9.

14. Chan TK, Demer JL. Clinical features of congenital abssuperior oblique muscle as demonstrated by orbital

andt.

sia. AAPOS 1999;3:143-50.

ior obl;16:375erior re7;34:38

of a la-60.ansposies of ab7:4287rior obl

lar muscles

chaffer DB.craniofacial

ital cranialDisord in

ral DuanesArch Oph-

Journal of AAPOSVolume 9 Number 1 February 200560 Hart, Quinn, and Taylor

15. Pinchoff BS, Sandall G. Congenital absence of the supertendon in craniofacial dysostisis. Ophthalmol Surg 1985

16. Lin P-Y, Yen M-Y. Congenital absence of bilateral infmuscles: a case report. J Pediatr Ophthalmol Strabismus 199

17. Zoller CC, Graf M, Kaufmann H. Unilateral aplasiarectus muscle. Klin Monatsbl Augenheilkd 2001;218:155

18. Gamio S, Tartara A, Zelter M. Recession and anterior trof the inferior oblique muscle (RATIO) to treat three casinferior rectus muscle. Binocul Vis Strabismus Q 2002;1

19. Drummond GT, Keech RV. Absent and anomalous supe

and superior rectus muscles. Can J Ophthalmol 1989;24:27

ique-7.ctus2-4.

teral

tionsent-95.ique

20. Greenberg MF, Pollard ZF. Absence of multiple extraocuin craniosynostosis. J AAPOS 1998;2:307-9.

21. Diamond GR, Katowitz JA, Whitaker LA, Quinn GE, SVariations in extraocular muscle number and structure indysostosis. Am J Ophthalmol 1980;90:416-8.

22. Gutowski NJ, Bosley TM, Engle EC. The congendysinnervation disorders. (CCDDs). Neuromusculpress.

23. Hotchkiss MG, Miller NR, Clark AW, Green WR. Bilateretraction syndrome. A clinical–pathological case report.

5-9. thalmol 1980;98:870-4.

An Eye on the Arts – The Arts on the Eye

You say you haven’t got the expertise for art and are just a writer, saying whatyou want to say and whenever you want to.

“But writing is also a form of art.”You insist that writing is a technical skill.“It just requires learning the technique, like you for example, you’ve learnt

how to operate with a scalpel. I don’t know if you’re a surgeon or a physicianbut that’s not important. As long as you acquire the technique anyone can writejust like anyone can learn how to use a scalpel.”

She laughs.You go on to say you don’t believe that art is sacrosanct, art is just a way of

life. People have different ways of life, art can’t represent everything.“You’re very intelligent,” she says.“You’re not exactly stupid yourself,” you say.“But some people are stupid.”“Who?”“Artists. They only perceive with their eyes.”“Artists have artists’ modes of perception, they rely more on visual percep-

tion than writers.”“Can visual perception allow one to understand a person’s intrinsic value?”“I don’t think so, but the crux of the matter is what is value? This differs

according to the individual, people have their own ways of looking at this. It isonly for those with similar values that different values have any meaning. Iwon’t be ingratiating and say that you are beautiful and I don’t know whetheryou are all beatiful inside, but I can say that it is enjoyable talking with you.Don’t people exist in order to have some pleasure? Only fools go out lookingfor unhappiness.”

“I also feel happy when I am with you.”—Gao Xingjian (from Soul Mountain)