Retinitis pigmentosa (RP) comprises a group of hereditary progressive retinal degenerative conditions characterised by typical fundus alterations, loss in visual field, and severely reduced or unrecordable electroretinograms (ERG) The first reported disease related mutations in the human rhodopsin gene, described in 1990 by Dryjet al was a heterozygous C->A tranversion in the second nucleotide of codon 23. Since than many further mutations has been identified to a current total of about 90. Here we describe, for the first time in the literature, the clinical phenotype associated with a Cys-167 -> Arg mutation (TGC -> CGC in exon 2) in an Italian family a V ected by autosomal dominant retinitis pigmentosa (ADRP). The same mutation was noted by Dryja t a, but there has been no report ofcorrelated clinical data.
Ocular signs associated with a rhodopsin mutation (Cys-167-->Arg) in a family with autosomal dominant retinitis pigmentosa.
Ciccodicola A;Miano MG;
1998
Abstract
Retinitis pigmentosa (RP) comprises a group of hereditary progressive retinal degenerative conditions characterised by typical fundus alterations, loss in visual field, and severely reduced or unrecordable electroretinograms (ERG) The first reported disease related mutations in the human rhodopsin gene, described in 1990 by Dryjet al was a heterozygous C->A tranversion in the second nucleotide of codon 23. Since than many further mutations has been identified to a current total of about 90. Here we describe, for the first time in the literature, the clinical phenotype associated with a Cys-167 -> Arg mutation (TGC -> CGC in exon 2) in an Italian family a V ected by autosomal dominant retinitis pigmentosa (ADRP). The same mutation was noted by Dryja t a, but there has been no report ofcorrelated clinical data.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
