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- W316217634 abstract "Publisher Summary Many human hereditary retinal degenerations are now known to be caused by mutations in genes that encode proteins exclusively expressed in photoreceptors. Currently, electroretinogram (ERG) photoresponses constitute the most direct noninvasive measure of rod and cone photoreceptor function in isolation. The ERG is a light-evoked field potential generated across the retina and is recorded with an electrode placed on the cornea. This chapter outlines the details of this new methodology and its application to patients with retinal degenerations caused by mutations in two photoreceptor-specific genes: rhodopsin and peripherin/RDS. ERG photoresponse recordings constitute a simple, direct, and in vivo method to quantify rod and cone dysfunction for better understanding of the initial functional insult in human photoreceptor degenerations. Naturally occurring or genetically engineered models of the human disease are being used increasingly to elucidate disease mechanisms. ERG photoresponses performed similarly in humans and animals may provide a common ground for interspecies comparison of dysfunction and allow the outcomes of potential forms of treatment applied to animal models to be extrapolated to human patients." @default.
- W316217634 created "2016-06-24" @default.
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- W316217634 date "2000-01-01" @default.
- W316217634 modified "2023-10-13" @default.
- W316217634 title "[41] In vivo assessment of photoreceptor function in human diseases caused by photoreceptor-specific gene mutations" @default.
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- W316217634 doi "https://doi.org/10.1016/s0076-6879(00)16753-9" @default.
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