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Retinitis pigmentosa ORPHA:791 #88

Closed LeneMartinsen closed 8 months ago

LeneMartinsen commented 1 year ago

Dear Helpdesk

A clinician at the Department of ophthalmology, Oslo University Hospital, was surprised that there is only one ORPHAcode for Retinitis Pigmentosa (ORPHA:791, disorder). She requests subtypes (based on clinical presentation, not genetics only).

Are there any ongoing or planned initiatives to update the nomenclature when it comes to Retinitis Pigmentosa? If not, I will ask the clinician to provide specific suggestions with documentation.

Thank you!

Kind regards, Lene

JTorphanet commented 1 year ago

Dear @LeneMartinsen,

No revision has been planned at the moment, but we are interested in having documentation. I'm starting a collaboration in September with ERN eye for other disorders, so it would be interesting to do this in parallel.

Best regards,

Julie

LeneMartinsen commented 1 year ago

Dear @JTorphanet

Thanks for the quick reply.

Great that there will be a collaboration with ERN eye. We will then ask the clinicians for documentation for subtypes of Retinitis pigmentosa. Right now we are in the midle of summer vacation in Norway so it will probably come in August. Will keep you posted!

Kind regards, Lene

JTorphanet commented 8 months ago

Dear @LeneMartinsen,

I would like to inform you that the collaboration with ERN Eye has just started few days ago. A specific work group has been set up, and the revision starts from the group "Rare (genetic) disorder of the posterior segment of the eye" .

Kind regards,

Julie