One of the common early symptoms of Batten disease is loss of vision and the disease may first be suspected during an ophthalmic examination. A loss of cells within the eye can be an indicator of several forms of Batten disease but because cell loss occurs in other forms of eye disease, an eye exam alone is not enough to diagnose the illness. Other steps taken in the diagnosis of Batten disease include:
- Detailed family history is obtained - Batten disease is inherited in an autosomal recessive fashion and family history can provide an indication of the likelihood that the disease has been inherited.
- Blood and urine tests - Certain abnormalities in the blood and urine can indicate Batten disease. For example, an elevated level of dolichol in the urine can be an indicator, as can the presence of white blood cells that contain holes or vacuoles.
- Tissue samples - Tissue analysis using an electron microscope can reveal the presence of the lipopigment deposits seen in Batten disease. These deposits may resemble the shape of half-moons or sand grains. The deposits are often observed in skin cells and cells lining the sweat glands. The deposits are found in many different tissues and skin, muscle, conjunctiva or blood samples may be used.
- Electroencephalogram (EEG) - An EEG is used to measure electrical activity in the brain to give an indication of whether a patient may be experiencing seizures.
- Brain scans - The brain is also examined using computed tomography (CT) scans and magnetic resonance (MRI) scans to reveal any areas of decay.
- Electrical studies of the eye - These tests can be used to examine the retina and visual responses and check for signs of problems that are common in Batten disease.
- DNA analysis - Each type of Batten disease is caused by a defect in a particular gene and genes for eight of the ten known forms have been identified. These genes can be tested for diagnostic purposes as well as for identifying carrier or prenatal status.
There is currently no specific treatment that can cure or slow progression of this condition and therapy is instead focused on preventing and relieving symptoms. For example, anti-convulsant drugs may be used in cases where patients suffer form seizures and physiotherapy can help individuals retain function of their body for as long as possible.