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The Management of Congenital Malpositions of Eyelids, Eyes and Orbits

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The Management of Congenital Malpositions of Eyelids, Eyes and Orbits Eye (\988) 2, 207-219 The Management of Congenital Malpositions of Eyelids, Eyes and Orbits S. MORAX AND T. HURBLl Paris Summary Congenital malformations of the eye and its adnexa which are multiple and varied can affect the whole eyeball or any part of it, as well as the orbit, eyelids, lacrimal ducts, extra-ocular muscles and conjunctiva. A classification of these malformations is presented together with the general principles of treatment, age of operating and surgical tactics. The authors give some examples of the anatomo-clinical forms, eyelid malpositions such as entropion, ectropion, ptosis, levator eyelid retraction, medial canthus malposition, congenital eyelid colobomas, and congenital orbital abnormalities (Craniofacial stenosis, orbi­ tal plagiocephalies, hypertelorism, anophthalmos, microphthalmos and cryptophthalmos) . Congenital malformations of the eye and its as echography, CT-scan and NMR, enzymatic adnexa are multiple and varied. They can work-up or genetic studies (Table I). affect the whole eyeball or any part of it, as Surgical treatment when feasible will well as the orbit, eyelids, lacrimal ducts extra­ encounter numerous problems; age will play a ocular muscles and conjunctiva. role, choice of a surgical protocol directly From the anatomical point of view, the fol­ related to the existing complaints, and coop­ lowing can be considered. eration between several surgical teams Position abnormalities (malpositions) of (ophthalmologic, plastic, cranio-maxillo-fac­ one or more elements and formation abnor­ ial and neurosurgical), the ideal being to treat malities (malformations) of the same organs. Some of these abnormalities are limited to Table I The manag ement of cong enital rna/positions one organ and can be subjected to a relatively of eyelid s, eyes and orbits simple and well recognised surgical treat­ Ocular Findings: ment. But often they are more widespread, Eyeball, eyelids, lacrimal passages, orbit, socket, involving eye and adnexa, oculo-facial region motility. or eye, face and other organs, in some well known malformative syndrome. Family History The clinical work-up must always include a Systemic Manifestations: description of the presenting signs and symp­ Face toms and an investigation of other signs General through a careful ophthalmic and systemic Radiologic investigations: examination. Echography, X-Rays, CT-Scan, NMR As a result of the clinical findings, some investigations will then be carried out: Laboratory investigations. radiologic work-up ranging from simple X-Ray to more sophisticated techniques such Genetic transmission and counselling. Correspondence to: Fondation Ophtalmo)ogique A. de Rothschild 25, rue Manin 75019. Paris. 208 S. MORAX AND T. HURBLI the maximum amount of abnormalities in a Table II Ocular find ings single setting, hence decreasing the number of surgical interventions that will be needed. EYE Vision, visual fields, intraocular pressure, The mechanism of the congenital anterior segment and sclera, retina and choroid ophthalmologic disorder may be direct, in this optic nerve, size and malformations (anophthalmos, microphthalmos, cryptophth­ case the symptom can either be isolated or almos), malpositions: ocular dystopia, motility: associated with a more complex malformation muscular agenesis, muscular extorsion superior creating syndromes or diseases. On the other oblique fontalisation. hand, because of the intricate relationships between the eye and its adnexa, some dis­ SO CKET Dermoids, dermolipomas, lipomas, der­ matocoeles pterygoides ( = choristomas) orders may, indirectly, be a consequence of a Investigation for 1st brachial arch syn­ pre-existing malformation. For instance, con­ drome and facial cleft. genital microphthalmos may result in micro­ orbitism that will need a clinical and radiologi­ EYELIDS (a) Eyelid margin malpositions: • Congenital entropion/epible- cal work-up. Similarly, a severe cranio­ pharon stenosis will lead to malposition of the eye­ • Congenital ectropion. ball (exophthalmos), this secondary (b) Levator dysfunction (neurogenic, exophthalmos may induce corneal exposure myogenic): • Ptosis and keratitis. As no single symptom of the • Eyelid retraction. ocular area is pathognomonic alone, it is very (c) Medial canthus malpositions (epi­ important to describe precisely each symptom canthus, telecanthus, telorbitism. and link it to its true cause or mechanism. (d) Lateral canthus malpositions: anti­ mongoloid fissures. (e) Colobomas and ablephary. Classification A number of classifications have been pro­ LACRIMAL DUCTS ABNORMALITIES posed according to the type of lesion or tissue Colobomas, stenosis ... involvement (soft tissue only, combined soft CONGENITAL ORBITAL ABNORMALITIES tissue and underlying bone or indirect Micro/Macr()-{)rbitism---craniofacial stenosis, pla­ involvement of soft tissue as a result of bony giocephal-telorbitism. malformation). We prefer a classification which relates to often as a result of congenital bony or orbital the involved organ (Table II). contents abnormalities as encountered in cra­ niostenosis or Von Recklinghausen's disease. A-Eyeball Abnormalities The eye may stay normally formed and func­ These can be of size or of shape. Micr­ tional, the corneal reflexes well centred and ophthalmos or anophthalmos are very precise the motility normal. Strabismus is not found examples. True anophthalmos is rarely in all cases. Treatment must include reposi­ encountered and CT-scan often reveals that in tioning of the bony orbit. fact it is simply a severe microphthalmos with sometimes a colobomatous cyst. These iso­ C-Oculomotor Abnormalities in Orbital lated malformations can also be associated in Malformations more complicated syndromes, e.g. first These may be isolated or associated with branchial arch or facial cleft syndromes. The other abnormalities. Direct lesions of the small size of an unaesthetic and non functional muscles occur: agenesis (as the agenesis of the eyeball will result in lack of development of superior rectus in Apert syndrome), or mal­ the bony orbit, producing a relative micro­ position of the muscle insertion or direction orbitism and lid size reduction ranging from due to orbital malposition (often extorsion). simple microblephary to subtotal ablephary. The most frequent syndrome is macular pseudo-ectropia with extorsion of all four B-Position Abnormalities recti that act like oblique muscles, resulting in Ocular dystopias, are displacement of the eye­ a V-syndrome, a double upshoot and weak­ ball in a vertical, transverse or sagittal plane ness of both superior obliques. This is most THE MANAGEMENT OF CONGENITAL MALPOSITIONS OF EYELIDS, EYES AND ORBITS 209 frequently encountered in hypertelorism and • Congenital ectropion due to cutaneous Treacher-Collins syndrome with anti­ lack is either present alone or belongs to a mongoloid lids. blepharophimosis syndrome. Hypertropia by hyperaction of the inferior oblique and weakness of the superior oblique Levator muscle dysfunction by excess or by can be explained by excessive sagittalisation deficiency of neurogenous origin or of the inferior oblique or frontalisation of the muscular dystrophy. superior oblique, as in cases of plagiocephaly This gives rise to the congenital ptoses and where the frontal bone is less developed and muscular retractions. retruded as compared to the maxillary. The following elements will be examined: Exotropia is frequent in hypertelorism, primary position, muscular function, pres­ being sometimes the result of the divergence ence of syntines and associated signs. of orbital axes and can be reduced simply by repositioning of the orbit, although muscle • Medial canthus malpositions include: surgery may sometimes be needed to correct epicanthus, telecanthus and intercanthal any residual strabismus. space widening by soft tissue lesion. They can either be isolated or integrated in a D-Abnormalities of the Conjunctival blepharophimosis or Waardenburg syn­ Fornices drome. The most frequently encountered lesions are Hypertelorism (Grei syndrome) is an inter­ those belonging to the groups: dermoids, canthal widening by lesion of the bony parts, dermo-lipomas, dermatocoeles and ptery­ its degree is variable and two aspects are goides. All can be classified as choristomas encountered: hypertelorism by simple cranio­ (presence of a normal tissue in an unusual stenosis and hypertelorism by orbito-facial location) (Fig. la and b). cleft. 1.2 These non-evolving lesions must incite the search for a first brachial arch syndrome or • Lateral canthus malpositions are less facial cleft. They can also be associated with frequent. palpebral abnormalities (colobomas). The most encountered aspect is the anti- mongoloid fissure as seen in the E-Palpebral Malpositions and Congenital Franceschetti-Treacher-Collins syndrome Malformations of the lids and in telorbitism with extorsion. Several categories can be described: • Colobomas and ab\ephary. Congenital mal positions of the lid margin: As well as the rest of the face, lids can be • Congenital entropion and epiblepharon subject to clefts. Colobomas are either iso­ due to lack of adherence of the inferior lid lated or associated and belong to the facial retractor of the skin. cleft group (Fig. 2). One must therefore look Fig. 1. a-Cong enital limbal dermoid . b-Cong enital dermolipoma of the lateral canthus (same patient) . 210 S. MORAX AND T. HURBLI General Principles of Treatment The severe bony malformations which require cranio-facial surgery have become better classified and
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