Literature DB >> 953201

Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.

B Stanescu, J Michiels, W Proesmans, B Van Damme.   

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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Year:  1976        PMID: 953201

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  2 in total

1.  Nephronophthisis.

Authors:  W Proesmans; B van Damme
Journal:  Arch Dis Child       Date:  1977-06       Impact factor: 3.791

2.  Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.

Authors:  B Lauweryns; A Leys; E Van Haesendonck; L Missotten
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1993-04       Impact factor: 3.117

  2 in total

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