Clinical spectrum of congenital optic nerve hypoplasia: review of 51 patients.
Fifty-one patients with congenital optic nerve hypoplasia (CONH) were reviewed. It was found that the risk of having an affected child is higher in an adolescent mother, and that maternal alcohol or drug abuse may be important factors. Frequently the disorder is associated with other neuropsychiatric handicaps, and with neuro-endocrine abnormalities. The findings suggest that CONH probably is not a homogeneous group of disorders; some may be caused by primary failure of differentiation of the retinal ganglion cells, while others may be the product of an acquired transsynaptic degeneration of optic-nerve fibres.
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D019965:Neurocognitive Disorders / Q000175:diagnosis; D009759:Nystagmus, Pathologic / Q000175:diagnosis; D007744:Obstetric Labor Complications / Q000175:diagnosis; D009898:Optic Disk / Q000002:abnormalities; D009900:Optic Nerve / Q000002:abnormalities*; D011247:Pregnancy; D011248:Pregnancy Complications / Q000175:diagnosis; D012160:Retina / Q000002:abnormalities*; D013285:Strabismus / Q000175:diagnosis; D014057:Tomography, X-Ray Computed; D014792:Visual Acuity