ocular abnormalities in the amniogenic band syndromeamniogenic band syndrome (ring constriction or...

British Journal of Ophthalmology, 1981, 65, 299-303

Ocular abnormalities in the amniogenicband syndromeLAURENCE S. BRAUDE,' MARILYN MILLER,2 AND JIM CUTTONE'From the 'Department of Ophthalmology, University of Illinois Hospital Eye and Ear Infirmary, and the2University of Illinois Center for Craniofacial Anomalies, Chicago, USA

SUMMARY Craniofacial and limb abnormalities are characteristic of amniogenic band syndrome.We present the ocular findings of a patient with this syndrome and compare these abnormalitieswith those in 20 previously reported cases.

Amniogenic band syndrome (ring constriction orStreeter dyspasial is characterised by constrictionbands that result in amputations or syndactyly ofdigits, in the constriction of limbs, or in the ampu-tation of the distal portion of the limbs.23 Torpinhas explained the bizarre facial clefts at nonapposi-tional sites to be caused by the fetus swallowing oneor more of the free-floating strands that result fromamniotic rupture.45 The tension of these strands intra-orally and extraorally produce secondary tears anddeformations. Microscopic and macroscopic exami-nation of the bands observed at the sites of constric-tion has confirmed their amniotic origin. Transitionaloligohydramnios after amniotic rupture has beenblamed for the club foot deformation commonlyassociated with these malformations. It is con-ceivable that the effects of amniogenic bands may besuperimposed on an earlier teratogenic lesion,producing a malformation by a different mechanism.The case report described here qualifies as suchan example.

Case report

A black female infant has been followed up at theUniversity of Illinois Center for CraniofacialAnomalies and Eye and Ear Infirmary. She is thethird child of unrelated parents. Two male siblingshad died (1 at 6 weeks from 'crib death' and 1 at 19months after an accident). There was no familyhistory of congenital defects. The pregnancy hadbeen complicated by urinary infections during thefirst 2 trimesters. These infections had been treatedwith ampicillin for 10 to 14 days each. There was no

Correspondence to Dr Laurence S. Braude, University ofIllinois Hospital Eye and Ear Infirmary, 1855 West TaylorStreet, Chicago, IL 60612, USA.

maternal history of trauma, drug ingestion, kernic-terus, abortions, or stillbirths.The patient was a full-term product (birth weight,

3304 g) of a vaginal delivery. Her head was normo-cephalic. A bilateral cleft lip and palate and completecleft of the secondary palate were noted (Fig. 1).This defect of nose, lip, and palate followed conven-tional embryonic appositional lines, showed noatypical morphology suggestive of secondary tearing,and was typical of similar defects not associated withamniogenic bands. She also displayed a number ofreduction defects and constriction bands of thefingers (Fig. 2). Most of the right foot was absent,and several bands were present in the right lowerleg (Fig. 3). She had full range of movement of theextremities and no club foot. Except for the expectedreduction of gross motor skills consistent with thelimb deformities she has shown normal growth anddevelopment.The ophthalmological examination disclosed a

marked upward (mongoloid) slant to the eyes andcolobomas in the medial and central thirds of theupper and lower lids (Fig. 4). The punctae werepatent on both sides. At 1 year of age the right eyehad unsteady fixation, the left eye central steadyfixation. Cycloplegic retinoscopy with 0 5 % tropi-camide and 0 5% cyclopentolate hydrochloride(with the patient under nitrous oxide anaesthesia)was +0-50I+1-50 x1800 in the right eye and+2-00/+2-00 x180° in the left. Interpupillarydistance was 5-3 cm (normal range at 1 year,4 0-5 5 cm); inter inner canthal distance was 3*5 cm(normal range at 1 year, 1 9-2 9 cm); inter outercanthal distance was 8-0 cm (normal range at 1 year,5 6-72 cm).6 She had 160 of right exotropia and nolimitation of the ocular muscles. The conjunctivaeappeared normal. Corneal diameters were 11 by10-5 mm in the right eye and 11-5 by 11 5 in the left.

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- Laurence S. Braude, Marilyn Miller, and Jim Cuttone

Fig. 1 Infant with amniogenicband syndrome showing upwardslant ofpalpebral fissures, cleftlip and palate, and normalshaped skull.

A large corneal leucoma occluded the visual axis ofthe right eye (Fig. 5). The iris was adherent to thecornea inferiorly. Because of the leucoma Keoppegonioscopy was difficult. No angle structures wereseen in detail, but the angle appeared open. In theleft eye a superonasal corneal leucoma was present.The angle of the left eye, which showed as a broadgreyish band, was open for 360° to the ciliary body.No view of the angle was possible in the area of theleucoma. Both anterior chambers were deep.Pupillary light reaction was difficult to determine on

..... .......... ..Y ....

....i ........d

Fig. 2 Patient with anmiogenicband syndrome has ringconstrictions and self-amputatedstumps on the -ight hand (left)anid normal left hand (right).

the right but was brisk on the left. The lenses wereclear, and discs and maculae appeared normal.

Schi0tz tonometry of the right eye was 24 mmHgwith a 5-5 g weight and 19 mmHg with a 7 5 gweight. The left eye showed 16 mmHg with the5 5 g weight and 12 mmHg with the 7 5 g weight.Perkins tonometry showed tensions of 13 mmHg onthe right and 9 mmHg on the left. The remainder ofthe physical examination and laboratory test resultswere unremarkable.The patient underwent surgery for the repair of

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Ocular abnormalities in the amniogenic band syndrome

Fig. 3 Patient with amniogenicband syndrome showing absentright foot and ring constrictionof lower leg (left) and ringconstriction of left second toe(right).

Proof of amniotic rupture without damage to thechorionic sac is no longer in question.5 The strandsof amnion may attach to the growing fetus andproduce malformations as early as the first trimester.

-- Wm.;. .. : g2.:: -, . . . . X l lff~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~....

.......... One-third of 327 fetuses in Torpin's series had~attachments of the head and mouth at almost all

_ 1 1 0 _........

~~~stages of gestation... We found 19 reported cases of amniogenic band

-~~.... ~ syndrome with eye findings and have summarisedthese cases in Table 1. Findings in our patient thatwere similar to those previously reported includedupward slant of the palpebral fissures, bilateralupper and lower lid colobomas, telecanthus, andbilateral corneal opacities. The lid colobomas may

Fig. 4 Amniogenic band syndrome infant has upward have been the result of traction on the lids by theslant of both palpebral fissures and bilateral colobomas amniotic bands, though no such band was seen atof upper and lower lids. Smiall grooves that extend birth in our patient. The corneal opacities may haveinferonasally from both lower lid colobomas probably been caused by amniotic band adhering to the cornearepresent sites of amniotic band attachment. Corneal with possible perforation. Before the ocular findingsleucoma is present in right eye; leucoma of left eye notseen under upper lid.

and digit an to reai th clef li an aae

defeatthe...most successfl r 8 _ _

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theicidencefof amnioticbadsois rtin500to d e to t

comnin lo socioeonomi grops Nohere-ri ueto.5Testad

noteinreasethe ndsor the int' sng omeonlowerlidb coloboms andSome augiths havtoreposrtultedthatctraumaltothe corneal mleuoma. oNote trcto grovefrom l rime.uterus during pregnancy causes amniotic rupture.5 coloboma.

:....::.:~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~~...........right~~ ~ ~ bilateraoparnealasctissubeqenamlidimaybmamay........Fig.4Amniogenicbandsyndrome infant has upward have been the result of traction onthe......lids............ ...slantofbothpalpebralfissuresand bilateral colobomas amniotic bands, though no such band was seenat~~~~~~~~~~~~~~......... .....

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Laurence S. Braude, Marilyn Miller, and Jim Cuttone

Table 1 Summary of eye findings in 21 cases ofamniogenic band syndrome

Case Anophthalmos Microphthalmos Facial band Hypertelorism Corneal Lid colobomano. involving eye opacity or cleft Other

Broome et al.l' (8 cases)1 OS234

+OU

Os

5

6 OD OS7

+

+ Median lid OS+ 'Scalloped'

eyelid OD

+

Corneal opacity OD andmisshapen iris ODCloudy cornea OS and iriscoloboma OS

Slight upward slant ofpalpebral fissures

8 +

Higginbottom et al.'2 (4 cases described in detail in series of 79)1

OS

OU

2 +OD OS OS

4

Jones et al."l (7 cases)I

2345

67

Position of OD distorted

No ocular abnormalities

First 6 cases had short,distorted palpebral fissures

oU

oU

UnilateralUnilateralUnilateralUnilateral

No ocular abnormalitiesmentioned

Beyth et al.2 (1 case)I

Braude et al. (1 case)I

'Compressed' supraorbitalridges and nose; right facialparesis

OU Upper and lower Upward slant of palpebrallid colobomas fissuresOU

Symbols: +, present; -, absent; blank, not mentioned.

can be attributed to amniotic bands, oligohydram-nios, or spontaneous malformations, more detaileddescriptions are needed.

It is possible that both compressed supraorbitalridges and facial nerve paresis are related to transientoligohydramnios and mechanical pressure on orbitalstructures in much the same way as Torpin postu-lated for the aetiology of clubfoot in his series.25The protean manifestations of this disorder are a

source of much confusion and prompted Higgen-bottom et al. to use the term amnionic banddisruption complex.12 Although affected individualsmay share a common pathogenic mechanism, no 2patients have identical clinical patterns.

This study was supported in part by core grant IP30EY01792and training grant EY703802 from the National Eye Institute;

grant DE-02872 from the National Institutes of Health; anda grant from the Maternal and Child Health Sciences.The authors thank Samuel Pruzansky, DDS, for his

helpful comments in reviewing the paper and John Paton,MD, for referring this patient.

References

1 Streeter GL. Focal deficiences in fetal tissues and theirrelation to intrauterine amputation. Contrib EmbryolCarney Inst 1930; 22: 1-44.

2 Beyth Y, Perlman M, Ornoy A. Amniogenic bandsassociated with facial dysplasia and paresis J ReprodMed1977; 18: 83-6.

3 Diamond LS. Ring constrictions: In Bergsma D, ed.Birth Defects Compendium. New York: Liss, 1979: 943-4.

4 Torpin R. Amniochorionic mesoblastic fibrous stringsand amnion bands: associated constricting fetal malfor-mation or fetal death. Am J Obstet Gynecol 1965; 91:65-75.

5 Torpin R. Fetal Malformations Caused by Amnion

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Ocular abnormalities in the amniogenic band syndrome

Rupture During Gestation. Springfield: Thomas, 1968.6 Pryor H. Objective measurements of interpupillary

distance. Pediatrics 1969; 44: 973-7.7 Waring GO. Congenital central corneal opacity: diagnosisand management. Trans Pac Coast Otoophthalmol Soc1976; 56: 361-89.

8 Frey T, Friendly D, Wyatt D. Re-evaluation of monocularcataracts in children. Am J Ophthalmol 1973; 76: 381-8.

9 Baker CJ, Rudolph AJ. Congenital ring constrictions andintrauterine amputations. Am J Dis Child 1971; 121:393-400.

10 Broome DL, Ebbin AJ, Jung AL, Feinauer LR, MadsenM. Aberrant tissue bands and craniofacial defects.Birth Defects 1976; 12: 65-79.

11 Jones KL, Smith DW, Hall JD, Ebbin AJ, Massond H,Bolbers MS. A pattern of craniofacial and limb defectssecondary to aberrant tissue bands. J Pediatr 1974;84: 90-5.

12 Higgenbottom MD, Jones KL, Hall BD, Smith D. Theamnion band disruption complex: timing of amnionruptive and variable spectra of consequent defects. JPediatr 1979: 95: 544-9.

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