AT BIRTH, a female infant small for gestational age had unusual findings on examination of the eyes. Although the corneal diameters were appropriate (10 mm), the pupils were remarkably large (Figure 1). The pupil size did not change with light stimulation. No suggestion of iris tissue could be identified in either eye. The corneas and lenses were clear, and a red reflex was present and symmetric in appearance in each eye. Findings from funduscopic examination showed no abnormality, and the remainder of the physical examination results were unremarkable.
There was no family history of similar findings. Results of a chromosomal analysis were normal (46, XX). A renal ultrasound examination showed no abnormalities. At age 1 month, the infant developed glaucoma.
Hartmann RW, Tunnessen WW. Picture of the Month. Arch Pediatr Adolesc Med. 2000;154(5):525-526. doi:10.1001/archpedi.154.5.525