T. M. Redmond is the first author of a 1998 study establishing an essential role for RPE65 in the mouse visual cycle. The team compared mice lacking RPE65 with control animals using electroretinography and biochemical measurements of vitamin A derivatives. The mutant mice lacked normal rod cell responses and rhodopsin, despite retaining the opsin component of the light-sensitive protein.[ref]
This separates two possible explanations of failed light detection. A rod cell may contain opsin yet fail to assemble working rhodopsin if the required light-absorbing retinal is unavailable. The mutant mice accumulated one group of vitamin A derivatives while lacking the normal 11-cis products, linking the physiological defect to disrupted visual cycle chemistry. The experiment demonstrated a requirement for RPE65 in this pathway; deleting a gene alone does not identify every reaction performed by its protein.[ref]
Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle by T. M. Redmond and others. Abstract: retained opsin, accumulated all-trans-retinyl esters and absent 11-cis-retinyl esters
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