P 378 Progressive bifocal chorioretinal atrophy (PBCRA): Localisation of the disease gene to chromosome 6q
نویسندگان
چکیده
Progrlsive cone dystroph!, ((:OI)), cone-rod dystrophy (CRD), choroidereruia (CHD) and rethdlis p@nentosa are fouur retinal progressive diwnl+rs which can he inherited iu a X linked fasbioo. We present 13 families afktd with ooe of tbes:r 4 disoredr;. We bare studied 16 arfecti men aurl 30 puaible feumle carriers. A completr ophtiilmic exploratiou a115 ILRG resting baoe hen done in every cxx. In 8 families, molecok analyses were performed, ming DNA markels linked to RI’2 and RI’3 loci. We observed that in affected men, phenotypes were simii to previously reported, aud tb~:re were difference: iu chid .sigms b&ween COD, CKD and XI.RP patients. Carrier women showed dlffemot clhd~al pattwm drperldii on the type or disomler and also lben ~‘L’TP a 5,; variable degree of aIT&ation. Molernlar mh.s acn‘ con\i&teot with the dinical fmdinp.
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ورودعنوان ژورنال:
- Vision Research
دوره 35 شماره
صفحات -
تاریخ انتشار 1995