Amaurotic familial idiocy

Alternative names:

batten disease; Jansky-Bielschowsky; Kufs' disease; lipofuscinosis; Spielmeyer-Vogt

Symptoms:

Amaurotic familial idiocy is an inherited disorder which derives its name from the three major features of the disease, blindness (amaurotic) and severe retardation (idiocy) and its tendency to run in families.

• visual disturbance
• ataxia, unsteady gait
• decreasing mental function
• seizures
• movement disorder (choreoathetosis)
• dementia

Signs and tests:

Other signs

• retinitis pigmentosa
• retinal pathology (conditions caused by disease)
• seizures - myoclonic

Tests include:

• urine for excess dolichol
• tissue biopsy to demonstrate lipofuscin (aging pigment) storage