Neuronal intranuclear hyaline inclusion disease presenting with childhood-onset night blindness associated with progressive retinal dystrophy

•A case of NIHID developing childhood-onset night blindness as the primary symptom.•She presented with progressive visual loss and muscle atrophy without dementia.•Electroretinography disclosed retinal dystrophy with rod and cone dysfunction.•Brain MRI revealed leukodystrophy and skin biopsy confirmed the diagnosis of NIHID.•Undiagnosed NIHID cases might exist in patients with retinopathy of unknown cause.