Cavitary developmental defects of the optic disc. Visual loss associated with optic pits and colobomas.
Congenital cavitary anomalies of the optic disc (optic pit and coloboma) are uncommon and frequently go unrecognized. Patients with these defects have a high incidence of visual loss and the abnormal appearance of the discs may be mistaken for atrophy due to acquired neurological disease. Occasionally, associated midline neurological developmental malformations will be found associated with pits, colobomas, or other dysplastic optic discs, as in one of our cases. A group of patients with optic pits and colobomas referred for neurological evaluation of visual loss are presented to remind the neurologist of the appearance of these congenital crater-like defects and of the causes of loss of vision.
D000328:Adult; D002648:Child; D003103:Coloboma / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004677:Encephalocele / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D008297:Male; D009898:Optic Disk / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000175:diagnosis