Talk:Choroideremia

The link between the missing REP1 gene and choroideremia

'The disease has been traced to a specific area of the X gene.'

There is no such thing as an X-gene, only an X chromosome and it is already stated that this disease is X-linked

'Lack of this protein [REP1] keeps essential nutrients from reaching the eye, causing deterioration of the above-mentioned layers in the back of the eye.'

This is roughly what is said on the choroideremia foundation page, in fact that even said that there is a total lack of REP2 in the eye, hence the disease only affecting the eye. That is wrong. If you really had no REP whatsoever, you would have no funtional Rabs and the tissue would die. Rabs are involved in vesicle trafficking, this is not really related to nutrients at all. The link between the loss of REP1 and choroideremia is not known. ChristineD 15:59, 29 January 2007 (UTC)

Mortality?

I was unable to find any study discussing mortality related to this disorder. The article only mentions eye problems and no other problems. Being blind is not generally related to mortality, so it's not clear how this disease could lead to mortality. Scholar gives low numbers of hits for the relevant queries. Thus it seems that it doesn't affect mortality, but we can't write this because of WP:SYN.

• https://scholar.google.dk/scholar?q=Choroideremia+%22life+expectancy%22&btnG=&hl=en&as_sdt=0%2C5
• https://scholar.google.dk/scholar?hl=en&q=Choroideremia+%22mortality%22&btnG=&as_sdt=1%2C5&as_sdtp=

If someone comes across a good source on this, please add it. --Deleet (talk) 17:09, 1 November 2016 (UTC)

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