Batten Disease

Batten disease encompasses a group of rare lysosomal storage disorders caused by mutations in genes affecting cellular waste disposal (particularly CLN genes), leading to accumulation of lipofuscin (age pigment) in neurons and other cells. The juvenile-onset form is most common, typically presenting ages 4-8 with progressive vision loss due to retinal degeneration, often beginning with night blindness. Seizures develop in the first few years after symptom onset, initially focal but often progressing to generalized and drug-resistant seizures. Cognitive decline, behavioral changes, sleep disturbances, and progressive movement disorders (ataxia, dystonia, parkinsonism) follow. The disease progresses relentlessly, with death typically occurring in adolescence or early adulthood. Different genetic forms have variable progression rates.