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January 1987

Bilateral Microphthalmos With Cyst and 13q Deletion Syndrome

Author Affiliations

Tampa, Fla

Arch Ophthalmol. 1987;105(1):29. doi:10.1001/archopht.1987.01060010035021

To the Editor.  —We herein report a case of bilateral microphthalmos with cyst and 13q deletion syndrome, the association of which has not been described, to our knowledge.

Report of a Case.  —A 2-week-old female infant was referred for evaluation of bilateral microphthalmos. The infant was delivered by cesarean section at 35 weeks' gestation because of fetal distress. She weighed 1520 g. A chromosomal disorder was suspected because of multiple congenital anomalies, including microcephaly, ambiguous genitalia, and bilateral hypoplasia of the thumbs. A karyotype showed partial deletion of the long arm of chromosome 13.The infant had small palpebral fissures bilaterally measuring 12 mm horizontally (Fig 1). Corneal diameters were 2 to 3 mm, and a bulging mass was evident behind the lower part of each eyelid. Computed tomography revealed bilateral microphthalmos with cyst (Fig 2). The cysts were joined to the globes by a broad isthmus that contained radiodense

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