Publication: Stargardt Hastalığı Ve Peutz-Jeghers Sendromu Birlikteliği Gösteren Bir Olgu
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Abstract
Stargardt Hastalığı ve Peutz-Jeghers Sendromunun her ikisi de genetik geçişli ve pigment metabolizmasında bozukluk gösteren klinik durumlardır. Literatürde, bu iki hastalığı birlikte bulunduran bir vaka bildirilmemiştir. Hastamızda bu birlikteliğin bulunmasından yola çıkarak, her iki hastalığın genetik zemin ve pigment metabolizması açısından ortak bir özellik taşıyıp taşımadıklarını tartıştık
Both, Stargardt Disease and Peutz-Jeghers Syndrome are genetic disorders which are related to deficiencies in pigment metabolism. In the literature, there is no accompanience of these two diseases. In the aspect of our patient having the diagnosis of both diseases, we discussed the possibility of a common genetical basis or pathogenesis about pigment metabolism, between these two disorders.
Both, Stargardt Disease and Peutz-Jeghers Syndrome are genetic disorders which are related to deficiencies in pigment metabolism. In the literature, there is no accompanience of these two diseases. In the aspect of our patient having the diagnosis of both diseases, we discussed the possibility of a common genetical basis or pathogenesis about pigment metabolism, between these two disorders.
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Volume
10
Issue
3
Start Page
278
End Page
282
