Juvenile neuronal ceroid lipofuscinosis
B. Genetic testing
Neuronal ceroid lipofuscinosis (NCL), also known as Batten disease, is a group of autosomal recessive lysosomal storage diseases characterized by lipofuscin accumulation in neural tissues including the brain and retina, causing progressive neurodegeneration and premature death.1,2 It can present during childhood or adulthood with progressive vision loss, optic nerve pallor, retinal degeneration, seizures, dementia-like symptoms, and psychomotor regression.2- 4 Vision loss is the most common reason for seeking ophthalmological care.3
Although several genes have been implicated, its pathophysiology is not entirely understood. Most of these genes encode for lysosomal proteins. It is hypothesized that tissues with high mitochondrial turnover are the most affected, such as the retina and optic nerve.5,6 There is no approved treatment for most types of NCL, but several are under investigation.4