Lipofuscin accumulation in the eye, is a major risk factor implicated in macular degeneration, a degenerative disease, and Stargardt disease, an inherited juvenile form of macular degeneration.
In the peripheral nervous system, abnormal accumulation of lipofuscin known as lipofuscinosis is associated with a family of neurodegenerative disorders – neuronal ceroid lipofuscinoses, the most common of these is Batten disease.
Also, pathological accumulation of lipofuscin is implicated in Alzheimers disease, Parkinsons disease, amyotrophic lateral sclerosis, certain lysosomal diseases, acromegaly, denervation atrophy, lipid myopathy, chronic obstructive pulmonary disease, and centronuclear myopathy. Accumulation of lipofuscin in the colon is the cause of the condition melanosis coli.
On the other hand, myocardial lipofuscin accumulation more directly reflects chronological ageing rather than human cardiac pathology.