TY - JOUR
T1 - Unilateral retinitis pigmentosa
T2 - A proposal of genetic pathogenic mechanisms
AU - Marsiglia, Marcela
AU - Duncker, Tobias
AU - Peiretti, Enrico
AU - Brodie, Scott E.
AU - Tsang, Stephen H.
PY - 2012/7
Y1 - 2012/7
N2 - PURPOSE. To investigate and integrate anatomic and physiologic findings from a group of patients who present retinitis pigmentosa affecting just one eye and use this information to propose mechanisms of disease pathogenesis. METHODS. This prospective cross-sectional study examined 5 patients, all female, from 8 to 60 years old. The study was conducted in 4 university hospitals. The patients were selected according to the characteristics of ocular involvement, notably unilateral presentation of similar anatomic and functional abnormalities. Full-field electroretinogram, fundus photography, fundus autofluorescence, infrared imaging, optical coherence tomography, and genetic testing were performed. RESULTS. Full-field electroretinogram showed unilateral decrease in amplitude and increase in implicit time; autofluorescence showed unilateral areas of decreased intensity. The USH2AW4149R mutation was confirmed in one patient. CONCLUSIONS. Imaging and functional testing are important in elucidating the unilateral pattern of the disease and in monitoring these individuals. Mosaicism or somatic mutation may cause unilateral genetic disease presentation.
AB - PURPOSE. To investigate and integrate anatomic and physiologic findings from a group of patients who present retinitis pigmentosa affecting just one eye and use this information to propose mechanisms of disease pathogenesis. METHODS. This prospective cross-sectional study examined 5 patients, all female, from 8 to 60 years old. The study was conducted in 4 university hospitals. The patients were selected according to the characteristics of ocular involvement, notably unilateral presentation of similar anatomic and functional abnormalities. Full-field electroretinogram, fundus photography, fundus autofluorescence, infrared imaging, optical coherence tomography, and genetic testing were performed. RESULTS. Full-field electroretinogram showed unilateral decrease in amplitude and increase in implicit time; autofluorescence showed unilateral areas of decreased intensity. The USH2AW4149R mutation was confirmed in one patient. CONCLUSIONS. Imaging and functional testing are important in elucidating the unilateral pattern of the disease and in monitoring these individuals. Mosaicism or somatic mutation may cause unilateral genetic disease presentation.
KW - Electroretinogram
KW - Full-field electroretinography
KW - Fundus autofluorescence
KW - Retina degeneration
KW - Retinitis pigmentosa
KW - Unilateral retinitis pigmentosa
UR - http://www.scopus.com/inward/record.url?scp=84863736207&partnerID=8YFLogxK
U2 - 10.5301/ejo.5000086
DO - 10.5301/ejo.5000086
M3 - Article
C2 - 22139616
AN - SCOPUS:84863736207
SN - 1120-6721
VL - 22
SP - 654
EP - 660
JO - European Journal of Ophthalmology
JF - European Journal of Ophthalmology
IS - 4
ER -