Aplasia of the optic nerves.
At birth, a full term baby showed marked cyanosis and respiratory distress, resulting from transposition of the great vessels. In spite of intensive care, and of balloon septostomies, the child died at the age of five days. The right eye was small and had an almost fully opaque cornea, together with other abnormalities of the anterior segment; the left eye was slightly larger, with a clear cornea. Both eyes showed varying degress of retinal dysplasia, and foci of microcystoid change. Macroscopically, and on histological examination of serial sections, the central retinal vessels were completely absent (a focus of neovascularisation in the vitreous of the right eye was apparently of choroidal origin). Furthermore, no optic discs, retinal ganglion cells and nerve fibres could be demonstrated. The optic nerves were missing. The findings are discussed.
D000328:Adult; D000867:Anterior Chamber / Q000473:pathology; D000869:Anterior Eye Segment / Q000473:pathology; D005123:Eye / Q000294:innervation / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009898:Optic Disk / Q000002:abnormalities; D009900:Optic Nerve / Q000002:abnormalities*; D012160:Retina / Q000473:pathology; D012171:Retinal Vessels / Q000002:abnormalities