P 378 Progressive bifocal chorioretinal atrophy (PBCRA): Localisation of the disease gene to chromosome 6q
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منابع مشابه
P 378 Progressive bifocal chorioretinal atrophy (PBCRA): Localisation of the disease gene to chromosome 6q
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. I...
متن کاملProgressive bifocal chorio-retinal atrophy. A rare familial disease of the eyes.
THE proband, an intelligent and rather talkative woman aged 63 years, was seen by one of us (A.A.D.) for blind certification. The fundus appearances were highly unusual. She stated that she was a member of a large kinship living in Dundee, many members of which were affected by a disease of the eyes similar to her own. Her knowledge of the family history was so accurate and extensive and her in...
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PURPOSE To report extensive chorioretinal atrophy during the long-term course of Vogt-Koyanagi-Harada (VKH) disease not treated properly in the initial phase. CASES Four patients with VKH disease were examined more than 10 years after onset of the disease. OBSERVATIONS They presented initially with classic features of VKH disease, except 1 patient who had developed bilateral, acute angle-cl...
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A 26-year-old-man who had suffered a severe electrical injury 3 years previously presented with blurred vision in his left eye caused by a posterior subcapsular cataract with nuclear sclerotic changes and peripapillary chorioretinal scarring. The pattern of retinal atrophy surrounding the optic nerve suggests a possible path of electrical current to the eye and demonstrates the selective tissue...
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This report describes an atypical case of pigmented paravenous chorioretinal atrophy, associated with focal progressive peripheral retinal microangiopathy, in a 51-year-old black female. The eyes were asymmetrically involved. Although several cases have been reported with typical features of this uncommon entity, none of them have been known to be associated with retinal microangiopathy. The oc...
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ژورنال
عنوان ژورنال: Vision Research
سال: 1995
ISSN: 0042-6989
DOI: 10.1016/0042-6989(95)90638-x