Familial Occurrence of Ablepharon Macrostomia

CASE REPORTS AND SMALL CASE SERIES

milliliter, the patient’s antiviral lesterol levels were 11.37 mmol/L Lipemia Retinalis in therapy was changed in December (440 mg/dL) and triglyceride levels 1997 to zalcitabine, ritonavir, sa- were 27.25 mmol/L (2414 mg/dL). Acquired Immunodeficiency quinavir mesylate, and delavirdine His visual acuity and findings from Syndrome Treated With mesylate. fundus examination of the left eye Protease Inhibitors In March 1998, the patient’s have remained normal. best-corrected visual acuity was stable Report of a Case. A 39-year-old man at counting fingers at 1 foot OD and Comment. Lipemia retinalis is a rare with human immunodeficiency vi- 20/30 OS. Findings from a fundus ex- condition occurring in the setting of rus infection developed cytomega- amination of the left eye demon- markedly elevated levels of serum lovirus retinitis in the right eye in strated whitish vessels most marked triglycerides. It occurs in people of 1995, necessitating treatment with in the periphery but extending to the all ages and in cases of primary and foscarnet sodium. His CD4 cell posterior pole (Figure). A view to the secondary hyperlipidemia. Changes count was 0.01 ϫ 109/L (10/µL). His posterior segment of the right eye was seen in this condition include a medications included zidovudine, la- not possible because of a silicone oil– milky white discoloration of the reti- mivudine, trimethoprim-sulfa- induced cataract. Plasma cholesterol nal vessels, beginning at the periph- methoxazole, rifabutin, and acyclo- levels were 16.54 mmol/L (640 mg/ ery but progressing to involve the vir. Indinavir sulfate was added to dL) (reference Ͻ5.2 mmol/L [Ͻ200 posterior pole as the level of serum his drug regimen in 1996. He had no mg/dL]), and triglyceride levels were triglycerides rises. The fundus may history of diabetes mellitus, hyper- 52.88 mmol/L (4684 mg/dL) (refer- also appear salmon colored owing to tension, or coronary artery disease. ence Ͻ1.52 mmol/L [135 mg/dL]). A the effect of triglycerides in the cho- Findings from an examination in diagnosis of grade II lipemia retina- roidal circulation. This fundus ap- September 1996 revealed a macula- lis1 was made. pearance is thought to be related to off retinal detachment in the right He was admitted to the hospital the scatter of light caused by the tri- eye secondary to inactive cytomega- in May 1998 with acute pancreatitis, glyceride-laden chylomicrons. The lovirus retinitis. He underwent an likely related to his hypertriglyceride- fundus appearance is transient and uncomplicated right vitrectomy and mia. In July 1998, administration of resolves quickly with the treatment silicone oil insertion in February ritonavir and saquinavir was discon- of the underlying hyperlipidemia. In 1997. The retina was attached post- tinued because of concerns regard- general, plasma triglyceride levels operatively with atrophic macular ing pancreatitis. Findings from fol- must be at least 28.22 mmol/L (2500 changes resulting in poor vision. low-up retinal examination revealed mg/dL) for lipemia retinalis to oc- Retinal blood vessels were normal bi- normal-appearing retinal vessels with cur.2 There is no associated change laterally. Because of a slowly climb- no evidence of lipemia retinalis. Vi- in retinal perfusion, and patients ing viral load to 162 000 copies per sual acuity was 20/25 OS. Total cho- maintain normal visual acuity.

Posterior pole (left) and nasal retina (right). Lipemia retinalis is seen in a patient with hyperlipidemia secondary to protease inhibitor therapy for acquired immunodeficiency syndrome.

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©2000 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/28/2021 Hyperlipidemia has been known 1. Vinger PF, Sachs BA. Ocular manifestations of His visual acuity remained between hyperlipoproteinemia. Am J Ophthalmol. 1970; to occur in people with acquired im- 70:563-573. 20/25 and 20/30 OD during this munodeficiency syndrome (AIDS) by 2. Henkes HE, Houtsmuller AJ, Bos PJ, Crone RA. period. 2 different mechanisms. The first is Fundus changes in primary hyperlipidemia. Oph- At follow-up on August 19, thalmologica. 1976;173:190-195. thought to involve an alteration in in- 3. Carr A, Samaras K, Burton S, et al. A syndrome 1998, nyctalopia and decreased vi- termediary metabolism by the re- of peripheral lipodystrophy, hyperlipidemia, and sual acuity (20/50 OD) was noted. insulin resistance in patients receiving HIV pro- lease of cytokines as a result of the im- tease inhibitors. AIDS. 1998;12(suppl):F51- There was a midperipheral pigment mune response triggered by systemic F58. epithelial change and cotton-wool infection. More recently, reports have 4. Carr A, Samaras K, Chisholm DJ, Cooper DA. spots around the perifoveal capillary Pathogenesis of HIV-1 protease inhibitor- emerged in the literature of severe associated peripheral lipodystrophy, hyperlip- network (Figure 1 and Figure 2). lipid abnormalities occurring with the idemia, and insulin resistance. Lancet. 1998;351: A visual field examination revealed a use of protease inhibitors.3 These lipid 1881-1883. dense midperipheral ring scotoma abnormalities can occasionally be as- (Figure 3). During the subsequent sociated with severe premature car- months, his visual acuity was stable diovascular disease. Cholesterol and at roughly 20/40 OD until it fell to 20/ triglyceride levels can rise to as high Retinal Toxic Effects 200 OD on September 30. The mid- as 25 mmol/L (967 mg/dL) and 61.7 Associated With peripheral area was scarred. A ganci- mmol/L (5465 mg/dL), respectively. Intravitreal Fomivirsen clovir implant was placed in his right It has been hypothesized that people eye on October 29. Between discon- with AIDS develop hyperlipidemia be- Fomivirsen sodium is a new oligo- tinuation of treatment with fomi- cause the region in which protease in- nucleotide drug that acts as an an- virsen in the right eye and place- hibitors bind to the human immuno- tisense compound to inhibit viral ment of the implant, he was treated deficiency virus-1 protease shares protein translation. It is given as an with a foscarnet sodium intravitreal structural similarity to proteins that intravitreal injection weekly for 3 injection at a dose of 2400 µg every regulate lipid metabolism.4 weeks and then every 3 weeks for 2 weeks. The CMV retinitis was well This is the first report to our maintenance.1 We report on retinal controlled, and visual acuity re- knowledge of an association be- toxic effects associated with fomi- turned to 20/30 OD. Nyctalopia per- tween lipemia retinalis and hyper- virsen. sists along with visual field changes lipidemia related to human immu- and pigment scarring. The cotton- nodeficiency virus infection. With Report of a Case. A 41-year-old man wool spots had resolved on fol- the decreasing morbidity and mor- with human immunodeficiency vi- low-up in January 1999. An electro- tality of people with AIDS since the rus infection was seen with zone 2 retinogram was attempted to evaluate advent of highly active antiretrovi- cytomegalovirus (CMV) retinitis in if the toxic effects were rod specific. ral therapy, people with AIDS are liv- his right eye on July 15, 1998. He The patient was unable to cooperate ing longer and are manifesting more had been enrolled in a phase III drug adequately. complications of antiretroviral trial for fomivirsen sodium at a dose The left eye was treated with a therapy. Although lipemia retinalis of 330 µg for treatment in his left eye. 330-µg dose of fomivirsen sodium per is a transient retinal finding and does He was receiving 3000 mg a day of study protocol. He experienced only not seem to directly cause any per- oral ganciclovir sodium to treat sys- mild aqueous cell, which was treated manent retinal disease, it is impor- temic CMV viremia (not part of successfully with topical steroids. tant to recognize it as a sign of pro- study protocol). He was enrolled Findings from a visual field exami- found lipid abnormality in people in the study, per protocol, at a dose nation performed on the left eye with AIDS, potentially causing pre- of 165 µg for treatment in his right showed a relative scotoma corre- mature cardiovascular disease and eye. The first injection was given sponding to a localized temporal pancreatitis. Referral to an inter- on July 22, 1998, and was repeated CMV-related retinal detachment, nist for reassessment of their anti- on July 29 and August 5. All injec- which had been walled off with laser retroviral therapy, commencement tions were without complication. photocoagulation. of lipid-lowering therapy, and as- sessment of cardiac risk factors would be advisable.

Kenneth T. Eng, MD Eugene S. Liu, MD Michael S. Silverman, MD, FRCPC Alan R. Berger, MD, FRCSC Toronto, Ontario

Corresponding author: Alan R. Berger, MD, FRCSC, Sunnybrook Health Sci- ences Centre, 2075 Bayview Ave, Suite Figure 1. Right eye. Cotton-wool spots are seen Figure 2. Retinal pigment epithelial disruption M1-202A, Toronto, Ontario, Canada near the fovea 4 weeks after the first dose of was seen circumferentially in the mid periphery. M4N 3M5. fomivirsen.

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©2000 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/28/2021 Periphery 30/60 – 1 Threshold Test Name CoA) reductase inhibitor, 10 mg Stimulus III. White Background 31.5 ASB Date 09-02-98 Time 04:09:37 PM daily. The patient denied dyspho- Blind Spot Check Size III Pupil Diameter VA Fixation Target Central Prescription Used DS DCX DEC nia, dysphagia, and muscle weak- Strategy Full Threshold ness elsewhere in her body. There Fixation Losses 4/17 xx False-Positive Errors 0/11 was no family history of ophthal- False-Negative Errors 0/6 moplegia. Fluctuation 1.41 dB Right 60° 60° Questions Asked 273 Results of a general physical examination were normal. Neuro- logical abnormalities included gen- Test Time: 09:15 HFA S/N 640-1673 eralized hyperreflexia, finger-nose ataxia, and gait ataxia. Visual acu- ° Indicates Within 4 dB of Expected; NO., Defect Depth in dB; 26 dB xx, NO. = Threshold in dB ity was 20/20 OU and the pupils Central Reference Level (NO.) = 2nd Time were normally reactive without an Figure 3. Visual field examination findings of the right eye show a dense midperipheral scotoma. afferent pupillary defect. The intraocular pressure was normal in both eyes. The ocular media were clear Comment. Antisense drugs work by nopathy, it is unclear whether the and the fundi were normal. There inhibiting the translation of viral perifoveal cotton-wool spots seen in was ptosis of the right and left up- messenger RNA. The antisense oli- this case were related to fomi- per eyelids. The interpalpebral fis- gonucleotide compound joins with virsen. sure was 5 mm in the right eye and viral messenger RNA as viral mes- 4 mm in the left eye. The levator senger RNA is released from the cell Haris I. Amin, MD function was 8 mm in each eye. nucleus. Consequently, viral- Rockford, Ill There was no weakness of the orbi- specific proteins are not produced Everett Ai, MD cularis oculi muscles. Results of an by infected cells. H. Richard McDonald, MD ocular motility examination re- Treatment with fomivirsen so- Robert N. Johnson, MD vealed upgaze limitation of −3 for dium was studied in patients with San Francisco, Calif the left eye and −2 for the right peripheral CMV retinitis receiving eye. There was neither fatiguability a dose of 165 µg and in patients with Corresponding author: Haris I. Amin, on prolonged upgaze nor an eyelid sight-threatening disease receiving twitch sign. On gaze to the right 2 MD, Northern Illinois Retina, 4855 E a dose of 330 µg. Time to progres- State St, Rockford, IL 61108 (e-mail: and left she exhibited no abduction sion with the 165 µg dose was 10 [email protected]). and limited adduction of −2. Down- weeks and 13 weeks with the higher gaze was normal. Convergence and dose. There is an 18.5% incidence 1. Amin HI, Ai E. Current management of CMV doll’s-eye movements were nor- retinitis. Ophthalmic Pract. 1998;16:244-249. of a transient rise in intraocular pres- 2. Marwick C. First “antisense” drug will treat CMV mal. There was no convergence re- sure associated with injection of the retinitis. JAMA. 1998;280:871. traction nystagmus. drug (0.05 mL for the 330-µg dose Magnetic resonance imaging and 0.025 mL for the 165-µg dose). results of the orbits, head, and neck This is transient and was not treated were unremarkable. Results of Reversible Atorvastatin- in this case. Mild intraocular inflam- laboratory studies, including he- mation occurs in 15% of cases. This Associated External matology, chemistry, and endo- is treatable with topical steroids. Ophthalmoplegia, crine panels, were normal. Results Preparation for injection in- Anti-acetylcholine Receptor of cerebrospinal fluid studies were volves removing the drug with a fil- Antibodies, and Ataxia normal. Tensilon testing performed tered needle. It is possible that im- on 3 occasions was negative. Re- purities in the constitution of the Atorvastatin is a commonly pre- sults of nerve conduction studies and drug may have led to the reaction in scribed medication used in the treat- electromyography with repetitive our patient. It is unclear whether ment of hypercholesterolemia. We stimulation were normal. Anti- there is a direct effect of fomivirsen report a case of reversible external acetylcholine receptor (anti-AchR) on the retinal pigment epithelium or ophthalmoplegia asociated with antibodies on 2 occasions were 10 rod cells. We believe that the ob- atorvastatin. times (0.22 nmol/L and 0.25 nmol/L) served retinal changes may not be the upper limit of the normal range dose related as the patient was re- Report of a Case. A 60-year-old (0.00-0.02 nmol/L). ceiving the higher dose in his fel- woman experienced painless hori- Results of serial neuro-ophthal- low eye with no signs of toxic ef- zontal diplopia, vertigo, blurry vi- mologic examinations remained un- fects. The resulting damage to the sion, and paresthesias of both up- changed until the ninth day, when retina or retinal pigment epithe- per extremities for 1 week. Her atorvastatin therapy was discontin- lium leads to severe, irreversible vi- medical history was significant only ued. Neurological improvement be- sual field changes and nyctalopia. Be- for hypercholesterolemia, which had gan within 2 days. At 10 weeks from cause cotton-wool spots are well been treated for 21⁄2 months with the discontinuation of atorvastatin known to occur in conjunction with atorvastatin, a 3-hydroxy-3- therapy, the patient had complete human immunodeficiency virus reti- methylglutaryl coenzyme A (HMG- resolution of the gait instability, par-

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©2000 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/28/2021 esthesias, ptosis, and diplopia in pri- and generalized hyperreflexia asso- 3. Wittbrodt ET. Drugs and myasthenia gravis: an update. Arch Intern Med. 1997;157:399-408. mary gaze. Extraocular motility was ciated with anti-AchR antibody el- 4. Rudski L, Rabinovitch MA, Danoff D. Systemic im- remarkably improved, with trace ab- evation secondary to atorvastatin, mune reactions to HMG-CoA reductase inhibi- duction limitation remaining in the which reversed after the cessation of tors. Medicine (Baltimore). 1998;77:378-383. 5. England JD, Walsh JC, Stewart P, Boyd I, Ro- extremes of gaze in both eyes. The the drug treatment. Other drugs as- han A, Halmagyi GM. Mitochondrial myopathy anti-AchR antibody level at this time sociated with anti-AchR antibodies developing on treatment with the HMG CoA reductase inhibitors: simvastatin and pravastatin. was within the normal range. are known to cause reversible oph- Aust N Z Med. 1995;25:274-275. thalmoplegia. D-Penicillamine may 6. De Pinieux G, Chariot P, Ammi-Said M, et al. Comment. This patient had an ill- bind to AchR, causing antigenic al- Lipid-lowering drugs and mitochondrial function: effects of HMG-CoA reductase inhibitors ness characterized by external oph- teration with the induction of auto- on serum umbiquione and blood lactate/ thalmoplegia and elevated anti- antibody formation, or it may act pyruvate ratio. Br J Clin Pharmacol. 1996;42: 333-337. AchR antibodies, both of which through prostaglandin E1 to block resolved. We suggest that the asso- the AchR binding sites.1,2 The association of atorvastatin with this ciation with elevated anti-AchR an- neuro-ophthalmic disorder is causal tibodies suggests that there is a sys- Familial Occurrence of rather than coincidental for the fol- temic immune reaction, such as Ablepharon Macrostomia lowing reasons: (1) the strong tem- those seen with other HMG-CoA re- Syndrome: Eyelid Structure 3 poral relationships of the initiation ductase inhibitors, or that there is and Surgical Considerations of atorvastatin treatment with the antigenic alteration of the AchR onset of symptoms and with its dis- which in turn results in the anti- Ablepharon macrostomia syn- continuation with the resolution of body formation. drome (AMS) is a rare congenital symptoms; (2) the normalization of The similarity of this patient’s disorder. To our knowledge, only 4 the anti-AchR level after discontinu- symptoms to those of a chronic ex- cases have been reported since the ation of the medicine; and (3) the de- ternal ophthalmoplegia suggests the original description of this syn- scription of ataxia in the literature possibility of mitochondrial dys- drome by McCarthy and West1 in as an adverse effect of fluvastatin in function. In recent literature, evi- 1977.2-5 The syndrome is character- experimental animals; ataxia was a dence linking HMG-CoA reductase ized by redundant skin, low-set ears, feature of our case.1 In addition, the inhibitors to mitochondrial dysfunc- macrostomia, ambiguous genitalia, manufacturers of HMG-CoA reduc- tion has been documented.4 This and severe eyelid malformation.1-5 tase inhibitors, including lovas- finding supports the importance of Although the designation ablepha- tatin, simvastatin, and fluvastatin, re- further investigation in such pa- ron literally means absence of eye- port “impairment of extraocular tients and the consideration of lids, some patients have been de- movement” as an adverse effect in muscle biopsy and/or serum stud- scribed as having inadequate3 or their product monographs; how- ies for measurement of the lactate- shortened2 eyelids. Several tech- ever, we are not aware of published pyruvate ratio.5,6 niques have been used to recon- literature that documents this asso- In this case of atorvastatin- struct the eyelids in patients with ciation. associated external ophthalmople- AMS, including rotational and bridge Illnesses known to be associ- gia, the mechanism is unknown. flaps.2,3 ated with a false-positive anti- Because HMG-CoA reductase in- Four years ago we had the op- AchR level (autoimmune liver dis- hibitors are widely and increasingly portunity to operate on one patient ease, lung carcinoma, amyotrophic prescribed, it is important that they with AMS.4 At that time we sug- lateral sclerosis, and Lambert- be considered as a possible cause gested that the eyelid condition in Eaton syndrome) and other expla- for unexplained external ophthal- AMS should not be considered a true nations for ophthalmoplegia (brain- moplegia. example of ablepharia because key stem, subarachnoid space, cavernous anatomical structures were clearly sinus, superior orbital fissure, and Gerald J. Negvesky, MD present in the malformed upper eye- orbit lesions) were all excluded by Martin P. Kolsky, MD lids.4 The relative normality of the the medical history, physical exami- Robert Laureno, MD posterior lamella allowed us to make nation, imaging, and cerebrospinal Thomas H. Yau, MD an excellent reconstruction using fluid studies. Washington, DC free skin grafts only.4 Although some features of this In this article we report for the patient’s external ophthalmoplegia Corresponding author: Martin P. Kol- first time to our knowledge a famil- were similar to myasthenia and there sky, MD, Physician’s Office Build- ial AMS recurrence. Intraoperative was a reversible elevation in the anti- ing, Suite 321, 106 Irving St NW, photographic documentation of this AchR antibody level, the negative Washington, DC 20010. case confirms that AMS is not a true tensilon test and negative repeti- ablepharia. Long-term surgical re- tive stimulation test on electromy- 1. Hartman HA, Myers LA, Evans M, et al. The sults from our first case demon- safety evaluation of fluvastatin, an HMG-CoA re- ography argue against a myasthe- ductase inhibitor, in beagle dogs and rhesus mon- strate that free skin grafts placed over nialike drug reaction. keys. Fund Appl Toxicol. 1996;29:48-62. the Mu¨ ller muscle layer provide ad- This is the first reported hu- 2. Bever CT, Chang HW, Penn AS, et al. Penicil- equate and long-standing corneal lamine-induced myasthenia gravis: effects of man case of external ophthalmople- penicillamine on acetylcholine receptor. Neu- protection with excellent eyelid po- gia, upper extremity paresthesias, rology. 1982;32:1077-1082. sition and motility.

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Figure 1. A, Ablepharon macrostomia syndrome with bilateral corneal ulcers on the patient’s third day of life. B, Placement of the upper eyelid incision and final result, one week after surgery. The corneas are not clouded.

A B C

Figure 2. A, After opening the skin and the orbicularis muscle layer, the septum is easily exposed. B, Preaponeurotic fat and levator aponeurosis. C, Excision of the levator aponeurosis.

Report of a Case. The patient, a girl, and the lower border of the eye- graft, reducing upper fornix pro- was born at term by cesarean deliv- brows (Figure 1, A). After open- lapse. ery to a 22-year-old mother and non- ing the orbicularis oculi muscle This procedure is exactly the consanguineous 26-year-old father. layer, the septum was easily identi- same as the one we used to recon- At birth several anomalies were fied (Figure 2, A). The septum was struct the upper eyelids of our first noted: severely shortened upper and then incised, allowing the preapo- patient with AMS . Figure 3 shows lower eyelids without eyelashes, bi- neurotic fat to prolapse. The fat was that after a 4-year follow-up pe- lateral exposure keratopathy and che- excised and the levator aponeuro- riod, the upper eyelids are still in mosis, hypertelorism, flattened ma- sis exposed (Figure 2, B). The tar- good position, contour is smooth, lar eminences, macrostomia (fishlike sal plate was not identifiable. The and corneal protection is excellent. mouth), malformed and low-set ears, aponeurosis, which had a normal ap- Lower Eyelid. Instead of a full- a nose with bilateral alar deformity, pearance, was removed from the thickness skin graft, we decided to dry and redundant skin, absence of margin up to the superior orbital rim lengthen the lower eyelids with lo- lanugo, female genitalia with vagina level (Figure 2, C). The Whitnall cal flaps. An infraciliar horizontal near the anus, and an omphalocele ligament was not developed. After skin approach was used to open the that was surgically corrected at birth. these steps, the eyelid margin could orbicularis muscle layer. The tarsal The infant was the third child of a be moved down without any ten- plates were absent. A white tissue be- family whose first child was born with sion. The Mu¨ ller muscle layer also neath the orbicularis oculi muscle AMS.4 A second child born 2 years had a normal appearance, includ- was identified as a fibrous expan- earlier was healthy. When we exam- ing the presence of a supratarsal vas- sion of the capsule-palpebral fas- ined the patient on her third day of cular arcade near the margin. A full cia. Careful incision of this tissue re- life, both corneas were clouded by skin graft was taken from the supra- vealed a more vascularized muscle central ulcers. clavicular fossa and sutured to the layer. The defect created was more wound directly over the Mu¨ ller important laterally than medially. Surgical Repair. Upper Eyelid. Sur- muscle. Mattress sutures were passed Vertical flaps from the zygomatic gery started with a skin incision laterally from the conjunctival side region were then rotated to allow placed between the eyelid margin and tied over a bolster on top of the support for the lateral canthus

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Figure 3. A, Ablepharon macrostomia syndrome. B, Four years after surgery.

area and correct the lower eyelid lamella. Septum incision and leva- as the clinical picture might sug- retraction. tor aponeurosis recession are essen- gest, but it cannot be delayed. tial steps for achieving a good final Comment. The main goal when per- position. For the 2 patients on Antonio A. V. Cruz, MD, PhD forming surgery on patients with which we have operated, the Carmo A. Souza, MD AMS is to reduce the area of the pal- Mu¨ ller muscle layer provided Victor E. F. Ferraz, MD pebral fissure and thus provide ad- excellent blood support to the free Carlos A. C. Monteiro, MD equate corneal protection. If a real skin grafts (Figure 1, B and Figure Fabiana A. Martins, MD ablepharia existed in AMS, eyelid re- 2, B). Patients with AMS have Saõ Paulo, Brazil pair would be complex; that is not loose, redundant skin, and grafts the case. The eyelids in patients with can be taken from different sites. In Corresponding author: Antonio A. V. AMS are abnormal, but most key the upper eyelids, the free skin Cruz, Departamento de Oftalmolo- anatomical structures are present, in- grafts allowed for good eyelid posi- gia, Hospital das Clıńicas–Campus, cluding skin, orbicularis oculi tion and motility. In both patients Faculdade de Medicina de Ribeiraõ muscle, septum, preaponeurotic fat, contour was smooth, with excellent Preto–USP, Ribeiraõ Preto, Saõ Paulo levator aponeurosis, the Mu¨ ller corneal protection. In the less mo- 14048-900, Brazil (e-mail: muscle, and conjunctiva. Only the bile lower eyelids, the main goal is to [email protected]). more anterior structures (skin, or- correct the lateral retraction. Local 1. McCarthy GT, West CM. Ablepharon macro- bicularis oculi muscle, septum, and flaps probably offer a more stable re- stomia syndrome. Dev Med Child Neurol. 1977; levator aponeurosis) are vertically sult than free skin grafts. 19:659-672. shortened, raising the eyelid mar- In conclusion, patients with 2. Hornblass A, Reifler DM. Ablepharon macrostomia syndrome. Am J Ophthalmol. 1985;99: gin close to the eyebrows. The pos- AMS should be described as having 552-556. terior lamella (conjunctiva and an extreme form of vertical eyelid 3. Price NJ, Pugh RE, Farndon PA, Willshaw HE. Mu¨ ller muscle) is not shortened and shortening rather than ablepharia. A Ablepharon macrostomia syndrome. Br J Oph- thalmol. 1991;75:317-319. therefore prolapses. thorough understanding of the eye- 4. Cruz AAV, Guimara˜es FC, Obeid HN, Ferraz VE, The goal of the eyelid repair is lid anatomy in patients with AMS is Noce TR, Martinez FE. Congenital shortening of the anterior lamella of all eyelids: the so- to lengthen all layers that are important because this syndrome called ablepharon macrostomia syndrome. Oph- located anterior to the Mu¨ ller represents one of the most dra- thal Plast Reconstr Surg. 1995;11:284-287. muscle. The procedure allows us to matic examples of an eyelid surgi- 5. Pellegrino JE, Schnur RE, Boghosian-Sell L, et al. Ablepharon macrostomia syndrome with as- take advantage of the relative nor- cal emergency in neonates. Upper sociated cutis laxa: possible localization to 18q. mality of the posterior eyelid eyelid repair is not as complicated Hum Genet. 1996;97:532-536.

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