title: Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.
abstract: Electroretinographic and electroencephalographic studies were conducted in a 12-year-old boy with nephronophthisis, chronic hepatic fibrosis, mental retardation and tapetoretinal degeneration (Senior-Boichis syndrome). Markedly reduced ERG amplitudes and flat oscillatory potentials were found in the proband. Delayed scotopic implicit time and reduced amplitudes of the beta-wave were found in the mother's ERG. ERG may identify the carrier state of  the Senior-Boichio syndrome.
mesh_terms: D002648:Child; D002908:Chronic Disease; D004596:Electroretinography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000150:complications; D008103:Liver Cirrhosis / Q000150:complications* / Q000235:genetics; D008297:Male; D012162:Retinal Degeneration / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D014398:Tuberculosis, Renal / Q000150:complications* / Q000235:genetics