Girl aged 3 years and 8 months. Gestational diabetes and mother Rh - grade A, gestation of 38 weeks and normal delivery. Normal female karyotype 46 XX.

Prenatal ultrasound diagnosis of this girl shows agenesis of the corpus callosum and multicystic dysplastic right kidney. In the central nervous system she has a choroid plexus cyst and a cyst in the deep interhemispheric region. On MRI examination, no abnormalities of neuronal migration are detected. Electroencephalographic (EEG) recordings were normal. Cognitive studies show a normal psychomotor development quotient.

Fundus examination showed a practically normal appearance of the right fundus, with a normal optic papilla, two small hypopigmented chorioretinal lacunae and absence of macular involvement. However, we observed in the left fundus a colobomatous malformation of the optic nerve and a larger number of chorioretinal lacunae without macular involvement.