A four generation family (UoM1) was ascertained with Waardenburg syndrome type 1 (WS1). The proband exhibited both WS1 and septo-optic dysplasia. A G to C transversion was identified in PAX3 exon 7 in four subjects affected with WS1 in this family including the proband. This glutamine to histidine missense mutation at position 391 may also affect splicing. There are over 50 mutations characteri...

The cyclin-dependent kinase inhibitor protein, p27(Kip1), is necessary for the timing of cell cycle withdrawal that precedes terminal differentiation in oligodendrocytes of the optic nerve. Although p27(Kip1) is widely expressed in the developing central nervous system, it is not known whether this protein has a similar role in neuronal differentiation. To address this issue, we have examined t...

conclusions demyelinating disease, anterior ischemic optic neuropathy, non-arteritic anterior ischemic optic neuropathy, autoimmune disease, and hereditary optic neuropathy could cause optic neuropathy. normal cbc parameters and the absence of clinical manifestations of vitamin b12 deficiency could not rule out its diagnosis. careful physical examinations and history-taking with a classical app...

Optic neuritis an inflammatory disorder of the optic nerve inflammation is usually in young’s with symptoms of eye pain and vision loss that occurs is a common symptom of MS. Optic neuritis is one of the first symptoms of MS that observable into disorders in white matter of cerebral cortex. The risk of MS in patients with optic neuritis during 2 years 20% in 15 years, 45-80% is calculated...