PURPOSE: To report two Japanese sibling cases with pigmented paravenous retinochoroidal atrophy (PPRCA) with asymmetrical manifestation. METHODS: A 33-year-old female and her 31-year-old brother were referred to our hospital. Funduscopic examination, angiography, and electroretinogram were performed. RESULTS: Both had retinal pigment epithelium atrophy with pigmentation along the retinal veins, which was consistent with PPRCA. The younger brother was more severely affected than his sister. Surprisingly, the extent and degree of the affected region was clearly different between both eyes of each patient. CONCLUSIONS: These findings have rarely been reported previously, and these cases stress the importance of considering gender, familial involvement, and variable manifestations of the disease in clinical care of PPRCA.
PURPOSE: To report two Japanese sibling cases with pigmented paravenous retinochoroidal atrophy (PPRCA) with asymmetrical manifestation. METHODS: A 33-year-old female and her 31-year-old brother were referred to our hospital. Funduscopic examination, angiography, and electroretinogram were performed. RESULTS: Both had retinal pigment epithelium atrophy with pigmentation along the retinal veins, which was consistent with PPRCA. The younger brother was more severely affected than his sister. Surprisingly, the extent and degree of the affected region was clearly different between both eyes of each patient. CONCLUSIONS: These findings have rarely been reported previously, and these cases stress the importance of considering gender, familial involvement, and variable manifestations of the disease in clinical care of PPRCA.
Authors: A I den Hollander; J R Heckenlively; L I van den Born; Y J de Kok; S D van der Velde-Visser; U Kellner; B Jurklies; M J van Schooneveld; A Blankenagel; K Rohrschneider; B Wissinger; J R Cruysberg; A F Deutman; H G Brunner; E Apfelstedt-Sylla; C B Hoyng; F P Cremers Journal: Am J Hum Genet Date: 2001-05-24 Impact factor: 11.025
Authors: Gareth J McKay; Stephen Clarke; Jason A Davis; David A C Simpson; Giuliana Silvestri Journal: Invest Ophthalmol Vis Sci Date: 2005-01 Impact factor: 4.799