Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

AF Wright, CF Chakarova, MM Abd El-Aziz… - Nature Reviews …, 2010 - nature.com
AF Wright, CF Chakarova, MM Abd El-Aziz, SS Bhattacharya
Nature Reviews Genetics, 2010nature.com
The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely
vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal
degeneration due to PR cell death—which occurs in conditions such as retinitis pigmentosa
and age-related macular degeneration—are being successfully dissected. Over one
hundred loci, some containing common variants but most containing rare variants, are
implicated in the genetic architecture of this complex trait. This genetic heterogeneity results …
Abstract
The retina provides exquisitely sensitive vision that relies on the integrity of a uniquely vulnerable cell, the photoreceptor (PR). The genetic and mechanistic causes of retinal degeneration due to PR cell death — which occurs in conditions such as retinitis pigmentosa and age-related macular degeneration — are being successfully dissected. Over one hundred loci, some containing common variants but most containing rare variants, are implicated in the genetic architecture of this complex trait. This genetic heterogeneity results in equally diverse disease mechanisms that affect almost every aspect of PR function but converge on a common cell death pathway. Although genetic and mechanistic diversity creates challenges for therapy, some approaches — particularly gene-replacement therapy — are showing considerable promise.
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