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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders > Hereditary diseases & disorders
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Hereditary Retinopathies - Progress in Development of Genetic and Molecular Therapies (Paperback, 2012 ed.)
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Hereditary Retinopathies - Progress in Development of Genetic and Molecular Therapies (Paperback, 2012 ed.)
Series: SpringerBriefs in Genetics
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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.
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