Amaurotic family idiocy involves excessive storage of lipofuscin . In excessive quantities, this material damages the nervous tissue. The disorder may become evident some time after the second year of life, in the teens or as an adult. Later appearance of the disease is associated with somewhat less severe debility.
Genetic counseling is indicated in families with a known history.
There are presently no genetic or enzyme markers for this disease. There may be a need for life-long assistance with care. The person may become totally dependent on others for help with daily activities. The information provided herein should not be used for diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions.