Picture of the Month

Abstract

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). 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.

Aniridia associated with ptosis in three generations of the same family

“…3,10 In 1986, Hamming et al reported a mother and two sons with aniridia and ptosis among other eye abnormalities. 10 More recently, Malandrini et al described a mother and two sons with aniridia, congenital ptosis and mental retardation. 3 All cases of ptosis associated with aniridia have been predicted to lead to loss of visual function.…”

“…About 33% of patients with aniridia will develop Wilm's tumour, usually by 3 years of age. 10 The third form, AN3, accounts for only 2% of cases and is inherited as autosomal recessive. It is known as Gillespie syndrome and is associated with mental retardation, cataract and cerebellar ataxia.…”