This study aims to present a novel mutation and characterize the ocular phenotype in a Chinese female diagnosed with <i>CLCN2</i>-related leukoencephalopathy (CC2L), also known as leukoencephalopathy with ataxia (LKPAT; MIM #615651). Here, CLCN2 is linked to leukoencephalopathy with mild cerebellar ataxia and white matter edema.