📂 الأمراض
cone-rod dystrophy 20 — التعريف
koni-çubuk distrofisi 20 / cone-rod dystrophy 20
Koni-çubuk dystrophy 20 is a genetic disease that affects photoreceptor cells (conies and rods) in the retina of the eye. This situation leads to function loss of cone cells first, and over time it leads to a loss of progressive vision by affecting rod cells. The disease begins typically during child or early adulthood and is characterized by color vision disorder, light sensitivity and central vision loss. ويمكن أيضا أن يتطور العمى الليلي وانكماش الرؤية المحيطة في مراحل متقدمة.
تعريف المرض
🔬 تعريف المرض
Cone-rod distrofi 20 (CORD20), GUCY2D genindeki mutasyonlardan kaynaklanan, koni ve rod fotoreseptörlerinin ilerleyici dejenerasyonu ile karakterize nadir bir kalıtsal retinal distrofidir.
🧬 الأسباب وعوامل الخطر
Otozomal dominant veya resesif kalıtım gösteren GUCY2D gen mutasyonları; bu gen, retinal guanilat siklaz enzimini kodlar.
🩺 الأعراض والعلامات
Erken çocuklukta başlayan fotofobi, renk görme bozukluğu, azalmış görme keskinliği, ilerleyici gece körlüğü ve periferik görme kaybı.
📋 طرق التشخيص
Fundus muayenesi, elektroretinografi (ERG) ile koni ve rod yanıtlarında azalma, optik koherens tomografi (OCT), genetik test.
💊 خيارات العلاج
Şu an için kesin tedavisi yoktur; düşük görme yardımcıları, UV koruyucu gözlükler, gen terapisi araştırma aşamasındadır.
⚠️ المضاعفات
İlerleyici görme kaybı, yasal körlük, maküler atrofi.
الأسئلة الشائعة
❓ ما هو koni-çubuk distrofisi 20؟
koni-çubuk distrofisi 20; koni-çubuk dystrophy 20 is a genetic disease that affects photoreceptor cells (conies and rods) in the retina of the eye. This situation leads to function loss of cone cells first, and over time it leads to a loss of progressive vision by affecting rod cells. The disease begins typically during child or early adulthood and is characterized by color vision disorder, light sensitivity and central vision loss. ويمكن أيضا أن يتطور العمى الليلي وانكماش الرؤية المحيطة في مراحل متقدمة.
❓ ما معنى cone-rod dystrophy 20 بالتركية؟
المعادل التركي لـ "cone-rod dystrophy 20" هو koni-çubuk distrofisi 20.
❓ ما هو المجال الطبي الذي يتعلق بـ koni-çubuk distrofisi 20؟
هذا المصطلح ينتمي إلى فئة الأمراض.