Autosomal Dominant Retinitis Pigmentosa with Intrafamilial Variability and Incomplete Penetrance in Two Families Carrying Mutations inPRPF8
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چکیده
منابع مشابه
Photoreceptor rosettes in autosomal dominant retinitis pigmentosa with reduced penetrance.
We performed histopathologic and immunofluorescence studies of autopsy eyes from a 73-year-old woman with autosomal dominant retinitis pigmentosa from a family with reduced penetrance. Light microscopic examination showed extensive photoreceptor loss in most regions. In the temporal midperiphery of the retina, there were patches of remaining photoreceptors, some arranged in rosettes. Electron m...
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ژورنال
عنوان ژورنال: Investigative Opthalmology & Visual Science
سال: 2011
ISSN: 1552-5783
DOI: 10.1167/iovs.11-8372