Signs and Symptoms
One of the most striking features of Alstrom syndrome is photophobia, a sensitivity to light, and nystagmus, a rapid movement of the eyes. It is known that patients with Alstrom syndrome experience degeneration of the retina that captures light and sends information to the brain. Individuals suffering from the condition have a difficult time seeing in well-lit situations and might need specially enchanced print and lenses to see correctly. Later in life, individuals may lose the ability to see in dim situations and are left with little or no vision.
A serious condition called cardiomyopathy, or a disorder of the heart muscle, can manifest. The heart has difficulty in pumping blood to all parts of the body which can build up in the lungs, feet, ankles and legs. When this happens, the heart may stop working and go into failure.
Children with Alstrom syndrome also begin to lose hearing ability due to a loss of nerve functioning in the auditory system. This can happen in childhood or early adulthood and can get progressively worse as age increases.
Other signs and symptoms can include short stature, spine curvature, obesity, learning disabilities and type 2 diabetes.