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¹Hacettepe Üniversitesi, Çocuk Sağlığı Enstitüsü, Ankara
²Hacettepe Üniversitesi, Moleküler Biyoloji A.D., Ankara Inherited central retinal degenerations are complex diseases which affect central retina (macula) causing partial to complete blindness. This group of diseases include cone-rod degeneration (CRD), cone degeneration (CD), macular dystrophy (MD), Stargardt disease (STGD), Best vitelliform macular dystrophy, pattern dystrophy, Sorsby’s fundus dystrophy, dominant drusen, central areolar choroidal dystrophy (CACD) and other type of retinal degenerative diseases affecting central retina. Macular degenerations are generally bilateral. Clinically, the disease is characterized by yellowish deposits, atrophic and pigmentary changes in the macula and progressive loss of central vision. Major disease causing genes for retinal degenerations are photoreceptor specific. Cone photoreceptors are dense in the macula, especially in fovea. While the hereditary forms of macular degenerations generally affect young people, age related macular degenerations (AMD) affect elder individuals. Like the other tissues and organs our eyes also suffer from natural process of aging. Due to increase in the number of old people in society, growing number of individuals are affected with macular degenerations and this situation promote the research for this issue.

In this review, the disease causing genes for central retinal degenerations are classified by their genetic inheritance pattern and recent molecular findings are outlined. Keywords : Inherited retinal degenerations, macula, molecular genetics, retina, Stargardt disease, AMD (Age Related Macular Degeneration)