One of our members has advised that an ophthalmologist in their country has stated that the disorder 313003009 |Rod dystrophy (disorder)| as a single entity does not exists and this would be either rod-cone dystrophy or cone-rod dystrophy.
Generally references agreed with this but I found an entry in OMIM of rod dystrophy as manifestation of Adams-Oliver syndrome 2 though rare.
https://www.omim.org/clinicalSynopsis/614219
Could you advise please if this can be a distinct disorder or if it should be inactivated.
Many thanks
Elaine
4 Comments
Sally Baxter
I agree that rod dystrophy alone is hardly ever used, but if there is a rare occurrence then would recommend keeping the code. Adding Cindy Cai for input since she's a retina specialist.
Anthony Khawaja
I agree, probably best to keep in there for now. When we move on to Retina, this can be on a list to revisit? I think this is the type of thing that may need to have approval from international societies before retiring (like we are going to get for all our glaucoma changes)...
Cindy Cai
Agree with Anthony, there should be a larger conversation and for this one and we should engage inherited retinal disease experts for this one specifically. But yes, in general, it's not often used, but I wouldn't retire it before we can have a larger discussion.
Elaine Wooler
Thank you for the input and I will let the requester know this will be reviewed again once the work moves on to retina.
Ian Green is there a way of creating a discussion category for Retina where this can be moved to until the time comes and added to when any further queries come in? I'm not sure how best to do that in Confluence.