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  • Title: Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.
    Author: Stanescu B, Michiels J, Proesmans W, Van Damme B.
    Journal: Birth Defects Orig Artic Ser; 1976; 12(3):463-74. PubMed ID: 953201.
    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.
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