Lj. Sullivan et al., A NEW CODON 15 RHODOPSIN GENE MUTATION IN AUTOSOMAL-DOMINANT RETINITIS-PIGMENTOSA IS ASSOCIATED WITH SECTORIAL DISEASE, Archives of ophthalmology, 111(11), 1993, pp. 1512-1517
Objective: To ascertain and characterize rhodopsin gene mutations in a
utosomal dominant retinitis pigmentosa and to correlate these mutation
s with the clinical phenotypes. Methods: DNA was extracted from leukoc
ytes, and the rhodopsin gene was amplified and analyzed using molecula
r-biological methods. Clinical and electrophysiological data were coll
ected from patient charts. Results: We found a disease-causing mutatio
n that was previously undescribed, to our knowledge, for autosomal dom
inant retinitis pigmentosa within codon 15 of exon 1 of the rhodopsin
gene. It was a single base-pair transversion (AAT to AGT) leading to a
serine-for-asparagine substitution. This altered a glycosylation site
in the intradiscal portion of,the rhodopsin molecule. The pedigree ex
amined demonstrated an inferior distribution of retinal pigmentary cha
nges and predominantly superior visual field loss with relative preser
vation of electroretinographic amplitudes and good vision, which is co
nsistent with sectorial or sectorial-like retinitis pigmentosa. Conclu
sions: A codon 15 rhodopsin gene mutation caused retinitis pigmentosa
in the pedigree studied. There may be an association between intradisc
al rhodopsin gene mutations and sectorial forms of retinitis pigmentos
a.