Abstract

A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis and Leber's congenital amaurosis. A single bright-flash electroretinogram (dark-adapted, white stimulation) disclosed subnormal bilateral responses. Her maculas showed a reddish spot surrounded by a broad, greyish retinal zone. Cytogenetic studies disclosed deletion of q22 to the terminal of chromosome 7 and partial trisomy of q31 to the terminal of chromosome 5. Because all reported patients with 5q trisomy have not had Leber's congenital amaurosis, the ocular abnormalities noted in our patient may be explained by the 7q monosomy.