📂 Diseases
cone-rod dystrophy 15 — Definition
Kon-Rod Distrofisi 15 / cone-rod dystrophy 15
The con-rod dystrophy 15 is a genetic disease, which leads to progressive degeneration of cone and rod cells in the retina of the eye. This condition also affects rod cells, which, especially responsible for central vision and color perception, as well as low light. The disease typically begins during childhood or early adulthood and leads to loss of vision over time. Specifically 15. type is associated with mutations in GUCY2D gene and indicates autozomal resessive inheritance.
Disease Definition
🔬 Disease Definition
Cone-rod distrofi 15 (CORD15), görme kaybına yol açan, kalıtsal bir retinal distrofi türüdür. Özellikle koni ve rod fotoreseptör hücrelerini etkileyerek ilerleyici görme bozukluğuna neden olur.
🧬 Causes & Risk Factors
CORD15, genellikle CDHR1 genindeki mutasyonlardan kaynaklanır. Otozomal resesif kalıtım paterni gösterir.
🩺 Symptoms & Signs
Erken dönemde renk görme bozukluğu, fotofobi (ışığa hassasiyet), santral görme kaybı; ilerleyen dönemde gece körlüğü ve periferik görme alanı daralması.
📋 Diagnostic Methods
Klinik muayene, elektroretinografi (ERG), görme alanı testi, optik koherens tomografi (OCT) ve genetik testler ile tanı konur.
💊 Treatment Options
Kesin bir tedavisi yoktur. Tedavi semptomatik ve destekleyicidir: düşük görme yardımcıları, UV korumalı gözlükler, A vitamini takviyesi (bazı durumlarda) ve gen terapisi araştırmaları devam etmektedir.
⚠️ Complications
İlerleyici görme kaybı, körlük, sosyal ve psikolojik sorunlar.
Frequently Asked Questions
❓ What is Kon-Rod Distrofisi 15?
Kon-Rod Distrofisi 15; the con-rod dystrophy 15 is a genetic disease, which leads to progressive degeneration of cone and rod cells in the retina of the eye. This condition also affects rod cells, which, especially responsible for central vision and color perception, as well as low light. The disease typically begins during childhood or early adulthood and leads to loss of vision over time. Specifically 15. type is associated with mutations in GUCY2D gene and indicates autozomal resessive inheritance.
❓ What is cone-rod dystrophy 15 in Turkish?
The Turkish equivalent of "cone-rod dystrophy 15" is Kon-Rod Distrofisi 15.
❓ Which medical field is Kon-Rod Distrofisi 15 related to?
This term belongs to the Diseases category.