Senior-Løken syndrome

Alternative eponyms

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A congenital disorder occurring in a juvenile and an adult type combining nephrophthisis and tapetoretinal degeneration.

Description

A congenital disorder occurring in a juvenile and an adult type combining nephrophthisis and tapetoretinal degeneration. In the juvenile type with onset in early childhood, there is blindness and death from renal failure before the age of 10. The adult type is marked by a later onset and a milder course. Other symptoms and signs are thirst, polyuria, mental retardation and arterial hypertension. Both sexes affected. Inheritance is probably autosomal recessive with variable expression.

The tapetoretinal degeneration comprises a group of disorders, including Leber congenital amaurosis and pigmentary retinal degeneration.

Bibliography

  • B. Senior, A. I. Friedmann, J. L. Brando:
    Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy.
    American Journal of Ophthalmology, Chicago, 1961, 52: 625-633.
  • A. C. Löken, et al:
    Hereditary renal dysplasia and blindness.
    Acta pædiatrica scandinavica, Stockholm, 1961, 50: 177-184.
  • J. S. Schuman, K. V. Lieberman, A. H. Friedman, et al:
    Senior-Loken syndrome (familial renal retinal dystrophy) and Coat's disease.
    American Journal of Ophthalmology, Chicago, 1985, 100: 822-827.

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