• Autopsy on one of the sister with Behr Syndrome revealed central atrophy of the optic nerves and total disarray of the normal laminar pattern of the lateral geniculate nucleus, dropout of neurons, and gliosis. (wikipedia.org)
  • Disease is a response to a specific infective agent (a microorganism or a poison), to environmental factors (e.g. malnutrition, injury, industrial hazards), to congenital or hereditary defects, or to a combination of all these factors. (thefreedictionary.com)
  • Because of the early onset of disease in patients who have RP with PPRPE, we considered CRB1 to be a good candidate gene for Leber congenital amaurosis (LCA). (nih.gov)
  • The MGDA or morning glory syndrome is a congenital optic nerve anomaly characterized by a funnel-shaped excavation in the optic nerve head that appears to contain a central tuft of glial tissue believed to be residual Bergmeister papilla. (entokey.com)
  • Optic pits are small crater-like holes that usually occur unilaterally at the temporal margin of the optic disc. (entokey.com)
  • Optic disc drusen are unrelated to drusen of the RPE or the heavily calcified epipapillary astrocytomas called giant drusen of the optic disc that occur in some patients with tuberous sclerosis complex. (entokey.com)
  • Optic disc drusen occur sporadically or may be inherited as an irregular autosomal dominant trait. (entokey.com)
  • These include hypoxic ischemic encephalopathy (less oxygen reaching the brain at birth or later), tumors (glioma of the optic nerve, craniopharyngioma etc.), toxicity (due to anti tuberculosis medications, paints, heavy metal poisoning etc.), trauma and brain infections (meningitis, encephalitis). (drdigvijaysingh.com)
  • B. A conglomeration of calcareous deposits is present in the optic nerve anterior to the lamina cribrosa. (entokey.com)