Cases reported • Amniotic Band Syndrome; Ring Constrictions, Intrauterine; Amniotic Bands; Streeter Syndrome; Annular Grooves; Amputation, Intrauterine

1/4. Chorioretinal lacuna in the amniotic band syndrome.

The malformations in the amniotic band syndrome (ABS) are due to entrapment of fetal parts by fibrous band in the amniotic sac. Limbs are most commonly affected followed by craniofacial defects in one third of patients. Ocular defects include corneal leukomas and lid colobomas often contiguous with facial clefts, strabismus, hypertelorism, and microphthalmos. Unilateral chorioretinal defects or lacunae are rare findings in the ABS. We report a female infant with such a lacunar defect along with central nervous abnormalities, and discuss the differential diagnosis and the embryopathic implications.

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ranking = 1
keywords = coloboma
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2/4. The ophthalmic manifestations and treatment of the amniotic band syndrome.

The amniotic band syndrome is an unusual cause of craniofacial deformities. The syndrome, which is initiated by rupture of the amnion, results in an unpredictable combination of compression deformities of the fetus, construction or amputation defects of the extremities, and craniofacial clefting deformities. The type and extent of ophthalmic abnormalities are dependent on the band location and timing. They include a combination of bony orbital clefts or hypertelorism; lid anomalies such as colobomas, ptosis, and ectropion; lacrimal outflow obstruction; and globe involvement. We review the clinical course of 14 patients diagnosed with, or suspected as having, this syndrome and describe the methods of treatment. In most instances, multiple surgical procedures were required to restore function. Satisfactory cosmesis proved more difficult to obtain.

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3/4. Uveal coloboma associated with amniotic band syndrome.

A baby girl had constriction bands and digital amputations typical of the amniotic band syndrome, as well as a typical uveal coloboma in a slightly microphthalmic eye. A small, free-floating amniotic band may have lodged in the fetal uveal cleft at 5 to 6 weeks of gestation, preventing closure of the cleft and thus resulting in this first reported instance of an association between amniotic band syndrome and an isolated uveal coloboma.

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keywords = coloboma
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4/4. Limb-body wall complex with anophthalmos and choroidal coloboma.

A 23-year-old primigravida underwent induced abortion in the 17th week of pregnancy because ultrasound fetometry had indicated possible encephalocele/hygroma of the skull and deformities of limbs and abdominal wall. The fetus delivered showed a deep facial cleft, absence of nose and maxilla, absence of parietal and frontal bones, missing right upper extremity, and a large thoracoabdominal defect with herniation of internal organs. The placenta was large, with an amniotic fold across the fetal surface. The brain was holoprosencephalic with a midline monoventricle and with focal brain wall dysplasia. The right orbit and eye were absent. The left eye was microphthalmic, with an abnormal cornea, a large choroidal coloboma inferiorly, a dysplastic retina, and a cataractous spherical lens. Theories discussed are pathogenesis of the limb-body wall complex (LBWC) and ocular malformations, particularly uveal coloboma. Previous cases of anophthalmos and uveal coloboma are listed. Microscopic examination of the eye was performed in only one of these. The present case is the sixth case published of choroidal coloboma in association with the LBWC.

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ranking = 8
keywords = coloboma
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