Batten Disease Diagnosis

Batten disease is a rare and inherited neurodegenerative disorder that typically begins in childhood but can also appear in adults.

Batten disease is characterized by fatty granular substances, called lipofuscins, that accumulate in nerve cells of the brain and in cells of the eyes, skin, and other organs. Vision loss is among the early symptoms of this disease, as are repeated seizures.

Batten can be challenging to diagnose because many of its symptoms are not specific to the disease, and patients often are tested or diagnosed with a variety of diseases before a conclusive diagnosis of Batten is reached. In fact, two to three misdiagnoses are reported to be common, and testing could take more than seven years.

For example, the vision problems that are often the earliest symptom in Batten patients are accompanied by a loss of cells within the eyes, but this also happens in other eye diseases. Additional tests are necessary.

Skin or tissue sampling

A small biopsy taken from the skin or other tissue and viewed under a microscope can help detect the presence of lipofuscins, also called lipopigments because of their distinctive yellow-green color. When seen under a special microscope, the color is evident and the lipofuscins have a distinct shape, with some looking like half-moons and others like fingerprints.

Blood or urine tests

A chemical called dolichol is in the urine of Batten patients at higher than usual levels. Blood tests can detect white blood cells that contain holes or cavities (vacuolated lymphocytes) in people with juvenile forms of this disease.

Measurement of enzyme activity

Batten disease is caused by mutations in genes that encode for lysosomal proteins. Lysosomes are compartments in the cell that degrade cell part that no longer work or are damaged. Many of these lysosomal proteins are enzymes, which perform biochemical reactions that can easily be measured in a laboratory. Batten may be indicated when these these enzymes are absent or at unusually low levels.

Electrical studies of the eyes

The measurement of electrical signals that are generated in the visual processing center of the brain can help detect eye problems that are typical of Batten disease.

Diagnostic imaging

Two imaging techniques, computed tomography (CT) and magnetic resonance imaging (MRI), can help detect changes in brain structure, such as areas that are shrinking.


An electroencephalogram (EEG) uses patches that are placed on the scalp to record the electrical signals from the brain. Specific patterns of electrical activity are a sign of seizures, a sign of juvenile Batten disease.

DNA analysis

Because Batten disease is caused by genetic mutations, it can be diagnosed through genetic testing. One difficulty, however, is that mutations in eight different genes have been reported in Batten disease, and  within these genes, many different mutations can occur. Genetic testing, for this reason, is an easier route in families where the CLN3 gene mutation is known.

A freely available NCL mutation database has been developed, which stores information about all mutations currently associated with Batten disease. Diagnostic algorithms, which are continuously updated, can help other families in attaining a definitive Batten diagnosis.


Batten Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.