Figure 5. CLN3 Mutations Associated With Isolated Retinal Degeneration.

A, CLN3 mutations observed in isolated retinal degeneration in the current series of 10 patients (above) and in the literature (below). Intronic mutations are indicated in green, missense mutations in blue, and truncation mutations in red. Mutations associated with isolated retinal degeneration observed in this series. B, CLN3 mutations associated with isolated retinal degeneration (left panel) compared with juvenile neuronal ceroid lipofuscinosis (JNCL; right panel). Multiple mutations associated with isolated retinal degenerations (left) are in the fifth transmembrane domain compared with more mutations associated with JNCL (right) in the luminal loops. Adapted with permission from Cotman et al (Taylor & Francis Ltd; www.tandfonline.com).

^aMutations also associated with patients with CLN3-associated JNCL with neurological symptoms.