Arteriohepatic dysplasia (Alagille syndrome) is a congenital cholestatic disease associated with ocular abnormalities. Three Japanese siblings, a 14-year-old girl, an 11year-old boy, and a 9-year-old girl with this syndrome were studied. All three patients showed neonatal jaundice, hepatic dysfunction, characteristic facies, and psychomental retardation. The two sisters had cardiac murmurs. Ophthalmological examinations revealed that they had posterior embryotoxon, refractive error, retinochoroidal degeneration, and electrophysiological abnormalities. The two sisters showed retinochoroidal degeneration and unilateral high myopia while the brother showed marked retinochoroidal degeneration with extensive pigment clumps. Visual fields showed moderate concentric contraction in the two sisters and marked concentric contraction in the brother. Amplitudes of the single flash electroretinogram were moderately reduced in the sisters, the test was nonrecordable in one eye and extensively reduced in the other eye of the brother. The electrooculogram was borderline in the elder sister and abnormal in the brother and younger sister. Visual evoked cortical potential (VECP) were abnormal in the high myopic eye in each of the two sisters. Ophthalmological findings including electrophysiological examinations may help to confirm the diagnosis of this multisystem familial disorder.