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Congenital Extraocular Muscular Defects

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Congenital Extraocular Muscular Defects CONGENITAL EXTRAOCULAR MUSCULAR DEFECTS J. P. LEE London Congenital defects of the extra-ocular muscles excluding had secondary or extended scleral attachments posterior to the levator are not common but may cause a variety of the true insertion. The superior oblique, as reported by types of incomitant strabismus. The aetiology is in many Helveston,3 may be found to insert on the nasal side of the cases obscure and the management may present problems. superior rectus or may insert directly into the Tenon's fas­ cia without actually attaching to the sclera. ABSENCE OF AN EXTRA-OCULAR Fink in his communications of 1947 and 19624•5 showed MUSCLE that there was a very wide variation in the insertions of the Duke Elder) quotes a number of references to cases of inferior and superior oblique muscles in a series of cadaver absence or hypoplasia of any of the extra-ocular muscles, eyes. many of the references dating from the 19th Century. My ABNORMALITY OF MUSCULAR ORIGIN personal experience of absence of extra-ocular muscles is limited to two main clinical situations, craniofacial dys­ Little has been written about this matter possibly because ostosis and congenital superior oblique palsy. An adult most of the extra-ocular muscles take origin from the apex case of Crouzon' s syndrome had a vestigial inferior rectus of the orbit and it is not normally the province of the stra­ and inferior oblique on both sides with a consequent gross bismus surgeon to describe abnormalities in that area. hypertropia and deficient ocular depression. In contrast to However, the inferior oblique, which arises from the this was a child of six years with Apert's syndrome who anterior part of the orbit has been shown by Whitna1l6 to had a bilateral hypotropia and esotropia with an A pattern have wide variation in its origin although little is known and who at surgical exploration turned out to have almost regarding the other extra ocular muscles. completely undeveloped superior rectus and superior ABNORMAL LINE OF MUSCULAR ACTION oblique muscles on both eyes. Helveston has pointed out the very high incidence of It is well known that in the craniofacial syndromes there anatomical abnormalities in congenital superior oblique may be very marked abnormalities of the line of action of palsy, reporting on a series of cases with congenital horizontal rectus muscles and this point has been made absence of the superior oblique tendon2 and more recently repeatedly in literature regarding these conditions. In pla­ describing his classification of superior oblique palsy giocephaly the trochlea may be further back on the based on likely clinico-pathological associations.' I have affected side than the other and this may lead to a relative seen some five patients who at surgery for an attempted superior oblique 'palsy' due to greater mechanical action superior oblique plication had an either absent or practi­ on one side than the other. Fink in 1962/ followed by cally non-existent superior oblique tendon and who Gobin in 19697 pointed out that difference in the angles of required alternative surgical strategiesto get a good result. insertion of the superior and inferior obliques on the eyes I suspect this abnormality is even more common than could lead to the causation of A and V patterns of strabis­ reported as many surgeons do not perform superior mus and both authors suggested that re-positioning of oblique plication as a primary procedure. oblique muscle insertions might be appropriate manage­ ment for these problems. ABNORMALITIES OF MUSCULAR INSERTIONS MULTIPLE INSERTIONS Muscle insertions have been reported to have been Emmel et al} described a series of 200 cadaver eyes in abnormally anterior or posterior to the normal position which a bifid or trifidinsertion of the inferior oblique was and many surgeons have reported cases of patients who shown in 50% of cases. This study was of interest as pre­ Correspondence to: John P. Lee. FRCS FCOphth .. Moorfields Eye viously it had been suggested that if such insertions were Hospital. City Road, London ECIV 2PD found at the time of surgery, this represented an artefact Eye (1992) 6, 181-183 182 J. P. LEE due to faulty surgical technique, but this paper showed The patients show congenital bilateral ptosis, and quite clearly that this was a true anatomical abnormality. asymmetric hypotropia with grossly limited elevation of Similarly, others have described double insertions of the both eyes, and convergence of the eyes on attempted ele· medial and inferior rectus muscles. vation. In addition there is almost invariably amblyopia of PRESENCE OF AN ABNORMAL OR the non-preferred eye and an abnormal head posture in ATAV ISTIC MUSCLE order to fix with the preferred eye. Marked astigmatic refractive errors are the rule and many cases have a A number of authors have pointed out that in vertebrates, strongly familial tendency in which the inheritance is of there is a retractor bulbi muscle derived from the same the autosomal dominant variety. embryonal tissue mass as the other extraocular muscles. A good deal of speculation has occurred as to whether Among mammals this is particularly prominent in these patients have a primarily muscular abnormality or rodents, ungulates and sirenians, but absent in primates. whether this is a secondary change in muscles following a Supply is by the sixth cranial nerve in most species. Whit­ form of progressive neurological degeneration. At present nale has described a case of marked persistence of this it is difficult to be sure which of these two views is the muscle in which part of the muscle was supplied by the more convincing. sixth cranial nerve and part by the third cranial nerve. Management of these children is not easy. It is impor­ 1 More recently Muhlendyck in 1991 0 has suggested, in a tant to refract them which may not be easy as to get 'on­ pair of case reports, that persistence of a retractor bulbi axis' andretinoscope their eyes with accuracy can involve muscle might represent a possible cause of a Duane's syn­ considerable difficulty in view of their very marked hypo­ drome. It is quite possible that remnants of this muscle tropic and sometimes exotropic ocular position. For the have accounted for some of the other musculofascial same reason fitting them with glasses can often be a tech­ abnormalities described by other authors but little is nically testing task. They require occlusion for their known of its likely incidence or frequency. amblyopia and this may be difficult as the child may TENDINOUS OR FASCIAL ABNORMALITY require to adopt a very marked head posture when fixing with its less preferred eye and this is usually cosmetically Under this heading one could classify strabismus fixusand worse than the head posture fixing with the preferred eye. Brown's syndrome. Strabismus fixus is a typically uni­ Surgery can be undertaken and Boergenl2 has recently lateral but occasionally bilateral condition in which the reported a large series in whom an aggressive surgical affected eye is grossly convergent and often hypotropic. approach led to good clinical results. Ptosis surgery is cer­ Surgical management may be extraordinarily difficult and tainly possible and one often finds that other family mem­ may require the use of free tenotomy to detach the bers have had ptosis surgery. These patients seem abnormal muscles from the globe. remarkably resistant to corneal exposure and may do well Often even this manoeuvre still leaves the eye with a with frontalis suspension procedures. residual deviation suggesting that there is a generalised abnormality of the orbital fascia and not simply a fibrotic PARADOXICAL INNERVATION contracture of an individual muscle. There are a number of unusual conditions not infrequently Brown's syndrome 1 1 is well known to most ophthal­ found in association, including Duane's syndrome, the mologists. The features are: Marcus-Gunn jaw-winking syndrome, the crocodile tear (a) limitation of elevation in adduction, syndrome and other similar bizarre synkineses. (b) down drift on adduction, Despite the many classifications suggested for Duane's (c) over-action of the contralateral superior rectus muscle, syndrome, I find it most useful to divide cases into typical (d) an abnormal head posture, and atypical. Typically the eye will show limitation of (e) a positive traction test abduction with widening of the palpebral aperture on (f) occasional bilaterality. attempted abduction, retraction of the globe on adduction The aetiology is obscure, it has been suggested that and narrowing of the palpebral aperture secondary to the there may be a short superior oblique tendon and that the retraction. Atypical features include variable degrees of tendon may have a thickening or lumpiness, causing it to limitation of adduction and up- or down-shoots of the pass poorly through the trochlea. It has been suggested that the trochlea itself may be abnormal and the possibility affected eye on attempted adduction or abduction. In addi­ of paradoxical innervation has been repeatedly raised, tion some degree of bilaterality is much more common although without much supporting evidence. than is generally realised, and careful inspection of the other eye will often show some limitation of abduction. MUSCULAR FIBROSIS Suggested aetiologies include contracted and fibrotic Under this heading is classified the rather diffuse col­ lateral rectus muscles, or, more popularly, paradoxical lection of disorders sometimes known as progressive anomalous innervation of the horizontal recti. It has been , 3, 4 fibrosis syndrome, general fibrosis syndrome, congenital suggested by a number of authors 12 1 1 that there has been external ophthalmoplegia or the shallow A syndrome. agenesis of the sixth nerve nucleus with replacement of its These are all probably versions of the same thing and have nerve supply with supply by the third nerve to the lateral certain features in common.
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