金台診所醫學美容的部落格

Retinitis pigmentosa syndromes

Thanks to Prof. Gihad Elnahri
Edited by A M Sallam

1)Retinitis pigmentosa + polydactyly= Bardet Biedl
2)RP+ deafness= Usher
3)RP+ spastic paraplegia= Laurence Moon
4)RP+ chronic diarrhea in a child= abetalipoproteinemia (Bassen-Kornzweig)
5)RP + peripheral neuropathy= Refsum
6)RP + type I diabetes= Alström
7)RP + ataxia= NARP (Neuropathy ataxia and RP)
8)RP + ptosis= Kearns Sayre

By Dr.Mohamed HosnyOne of the very important aspects that is not known and ignored by residents is the Supportive diet for refsum and abetalipoprotinemia.
In Refsum phytanic acid free diet and lots and lots of vitamin A ( mega doses ) in bassen-kronzweig.
The diet regimen has been reported to REVERSE some degree of RP.
The good trainees are more concerned with memorizing the associations than with management ..
The interesting thing is that this is basic knowledge in the training abroad , we were taught this as registrars in the 90s while here this is considered very advanced science