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Dror Sharon, Gail A. P. Bruns, Terri L. McGee, Michael A. Sandberg, Eliot L. Berson, Thaddeus P. Dryja; X-Linked Retinitis Pigmentosa: Mutation Spectrum of the RPGR and RP2 Genes and Correlation with Visual Function. Invest. Ophthalmol. Vis. Sci. 2000;41(9):2712-2721. doi: https://doi.org/.
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purpose. To assess the frequency of RPGR and RP2 mutations
in a set of 85 patients with X-linked retinitis pigmentosa (XLRP) and
to compare the visual function of patients with mutations in RPGR versus RP2.
methods. Eighty-five unrelated patients with XLRP were ascertained, mainly from
North America. The single-strand conformation polymorphism (SSCP) and a
direct sequencing technique were used to screen their DNA for mutations
in the coding region and splice sites of RPGR and RP2. The Snellen visual acuities, visual field areas, and
0.5-Hz and 30-Hz electroretinograms (ERGs) were measured in male
patients. The visual function parameters were compared using multiple
results. A wide spectrum of mutations was found in both genes, including
missense, nonsense, splice-site, and frameshift mutations. Twenty
putative pathogenic mutations in RPGR, 15 of which were
novel, were found in 22 patients (26%), whereas 6 mutations in RP2, 4 of which were novel, were found in 6 patients (7%).
A high fraction of the mutations in both genes affected amino acid
residues within or adjacent to presumed functional domains. Comparison
of visual function between comparably aged patients with mutations in RPGR versus RP2 showed that, on average, patients
with RPGR mutations have lower ERG amplitudes and smaller
visual field areas.
conclusions. Mutations in RPGR and RP2 genes together account
for approximately 33% of cases of XLRP in North America. Patients with RPGR mutations have less overall retinal function on average
than those with RP2 mutations, on the basis of measurements
of visual field areas and full-field ERG
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