Details

Autor(en) / Beteiligte

• SIMONELLI, FRANCESCA
• RINALDI, MARIO
• NESTI, ANNA
• TESTA, FRANCESCO
• RINALDI, ERNESTO
• CICCODICOLA, ALFREDO
• FLAGIELLO, LUISA
• MIANO, MARIA GIUSEPPINA
• VENTRUTO, VALERIO
• D’URSO, MICHELE

Titel

Ocular signs associated with a rhodopsin mutation (Cys-167→Arg) in a family with autosomal dominant retinitis pigmentosa

Ist Teil von

• British journal of ophthalmology, 1998-06, Vol.82 (6), p.709-709

Ort / Verlag

BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd

Erscheinungsjahr

1998

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• E ditor ,-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 Dryja et al, 1 was a heterozygous C[arrow right]A tranversion in the second nucleotide of codon 23. Since than many further mutations has been identified to a current total of about 90. In many cases of retinal degeneration cells undergo apoptotic death; but it is not known whether apoptosis is involved in all the forms of induced or degenerative photoreceptor death. 4 Such mechanisms are just coming under scrutiny.