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Hereditary Retinopathies
Pete Humphries
Marian M. Humphries
Lawrence C. S. Tam
G. Jane Farrar
Paul F. Kenna
Matthew Campbell
Anna-Sophia Kiang
其他書名
Progress in Development of Genetic and Molecular Therapies
出版
Springer Science & Business Media
, 2012-08-07
主題
Medical / Genetics
Medical / Ophthalmology
Medical / Clinical Medicine
ISBN
1461444993
9781461444992
URL
http://books.google.com.hk/books?id=_7gd3KkpEOQC&hl=&source=gbs_api
EBook
SAMPLE
註釋
The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.