Diagnosis
AS is usually diagnosed through visual inspection by an ophthalmologist or optometrist using a slit lamp. Differential diagnoses
Several conditions can have a similar color and appearance. Limbus sign is caused by dystrophic calcification at the corneal limbus, and can be confused with AS in geriatric populations. Anterior embryotoxon is a congenital widening of the corneal limbus. Posterior embryotoxon is a congenital thickening and anterior displacement of schwalbes line.Other conditions with similar appearance, but differing in color are limbal ring, and Kayser–Fleischer ring. Treatment
In the elderly, arcus senilis is a benign condition that does not require treatment. The presence of an arcus senilis in males under the age of 50 may represent a risk factor for cardiovascular disease, and these individuals should be screened for an underlying lipid disorder. The opaque ring in the cornea does not resolve with treatment of a causative disease process, and can create cosmetic concerns. Epidemiology
In men, AS is increasingly found starting at age 40, and is present in nearly 100% of men over the age of 80. For women, onset of AS begins at age 50 and is present in nearly all females by age 90.
This mutation has also been documented in rodents, but they do not acquire VWM, while humans do. Another common mutation is G584A found in the eIF2B5 subunit. A correlation with stress has also been made, as eIF2B plays a central role in stress management – it is essential in down regulation protein synthesis in different stress conditions – and VWM patients are highly sensitive to stress. Protein eIF2B exists in all cells, and if this protein is reduced enough the cell will be negatively affected, and if it is reduced to zero, the cell will die. In affected cells, the protein is reduced to about 50%, which is acceptable for functionality in most cells, but not in glial cells since they synthesize a large amount of proteins constantly and need as many functioning proteins within them as possible. This would lower the baseline of the amount of stress a cell can handle, and thus in a stressed environment, it would have detrimental effects on these cells. Mutations in three of the subunits of eIF2B (2,4,&5) has been seen in both VWM and premature ovarian failure. The North American Cree population has also been found to have a distinctive mutation, R195H, which can lead to VWM. All patients who have been studied only have one mutation present in the gene, causing the eIF2B to still be active, which leads to VWM. If two mutations occurred, then eIF2B activity would be stopped by the body. Neuropathology
Upon autopsy, the full effect of VWM has been documented.