retinal dystrophy with leukodystrophy (Experimental Factor Ontology identifier EFO_0010738) can be described as follows. Retinal dystrophy and leukodystrophy (RDLKD) is a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism. Patients exhibit ataxia and spastic paraparesis as well as developmental delay, and may show facial dysmorphism.