The disease is generally diagnosed through laboratory tests, including genetic or enzymatic testing. But other tests may be carried out to support a suspected case or confirm a diagnosis, and to identify and treat particular symptoms. This includes eye tests, for example those measuring the electrical activity of the eyes.
Eye tests for Batten disease
Eye-related tests of Batten disease symptoms can be varied, including electroretinograms, autofluorescence imaging, and optical coherence imaging.
A study published in the British Journal of Ophthalmology suggested that children with Batten disease show key abnormalities on electroretinograms, and these differences were of use in moving toward an early diagnosis before other symptoms, such as seizures and evidence of developmental regression, occur. The study assessed nine patients, ages 4-8, with vision loss but had not been diagnosed with Batten disease.
Autofluorescence imaging, or fundus autofluorescence (FAF), can also provide an indication of eye health. It can be used to estimate the thickness of the layers of the eye, which can deteriorate as Batten disease progresses.
A study used FAF to examine the eyes of nine Batten patients. Increased levels of fluorescence were observed at the early stages of the disease, with levels declining due to retinal atrophy as the disease progressed. The study was published in the journal Ophthalmic Genetics.
Optical coherence tomography
Optical coherence tomography (OCT) uses light microscopy to create images of the different layers of the eye. For this test, the head is supported as an OCT machine scans the eye with light.
OCT can also be used to identify degeneration, as the thickness of eye layers can help to detect the onset of atrophy.
A case study of two 7-year-old girls, published in Retinal Cases & Brief Reports, demonstrated the effectiveness of OCT in diagnosing juvenile Batten disease. Both girls had similar abnormalities, independent of their specific — and different —disease-causing genetic mutations. Test results showed advanced degeneration of the layer of cells required to detect light (photoreceptors), and argued the test could be used in diagnosing juvenile Batten disease in earlier stages.
The study also suggested that OCT may be a preferable test to FAF, as the bright light used for FAF may be difficult for children to tolerate.
Risks associated with eye tests
These eye tests are generally low risk. An electroretinogram may cause slight discomfort and has a minor risk of scratching the eye. If this occurs, the patient is treated with antibiotics to prevent infections.
Autofluorescence imaging, and to a lesser degree OCT tests, can result in the eyes becoming more sensitive to light for a few hours after the examination.
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