This is a rare disorder of blood vessels with secondary effects in multiple organ systems.
Abnormally tortuous blood vessels may be seen in the retina as early as the first two decades of life. Sometimes during stress or mild exercise small hemorrhages are seen in the retina although usually full recovery follows and normal vision returns. This may also be seen in the blood vessels under the nail beds. Larger vessels such as those supplying the brain may have aneurysms (segmental ballooning) and can bleed leading to CVAs (cerebrovascular accidents). Brain imaging often show a variable amount of damage.
The kidneys may contain large cysts and mild dysfunction of the kidneys can often be detected. The heart rate may be irregular. Some patients experience pain in the fingers and toes in cold weather. Painful muscle cramps sometimes occur lasting seconds to hours.
Electron microscopy demonstrates abnormalities in basement membrane components of blood vessels.
This condition is inherited in an autosomal dominant pattern in which a single mutation is passed from parent to child with a 50% probability. A carrier parent can expect that on average half of his/her children will inherit the same disorder.
The condition in sub-adults is likely to be detected by an eye doctor (ophthalmologist) on a routine examination or because of a transient vision loss. Older individuals may present to other specialists with cardiac, kidney, brain, or muscle disease.
Few people are severely handicapped and longevity is likely normal in most. No treatment is available for the underlying condition but regular general checkups are advised since there may be specific organ treatment for heart, kidney, muscle, and brain disease.