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Retinal manifestations in familial juvenile nephronophthisis
Author(s) -
Godel Victor,
Luna Adrian,
Nemet Pinhas,
Lazar Moshe
Publication year - 1979
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1979.tb01000.x
Subject(s) - retinitis pigmentosa , nephronophthisis , genetics , retinal , expressivity , retinal degeneration , bardet–biedl syndrome , phenotype , biology , medicine , gene , ophthalmology
Three families affected by juvenile nephronophthisis are described and genetically analyzed. The extrarenal manifestations of the disease include retinal findings such as congenital Leber amaurosis, retinitis pigmentosa and sector retinitis pigmentosa. Autosomal recessive transmission and the wide phenotypic spectrum are discussed. The variability in the retinal findings is explained by the presence of a pleiotropic gene with variable expressivity.