Author： Kiratli Hayyam Tatlipinar Sinan
Publisher： Informa Healthcare
ISSN： 1381-6810
Source： Ophthalmic Genetics, Vol.20, Iss.3, 1999-09, pp. : 183-187
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Abstract
A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in the peripheral retina. Photopic and scotopic ERG were extinguished. Even though this is an exceedingly rare association, these findings along with neurological symptoms should alert the physician to conduct prompt cranial imaging.
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