Biology seminar: Macular degeneration

Dean Bok, Ph.D. Professor of Ophthalmology Jules Stein Eye Institute University of California – Los Angeles

Age related macular degeneration (AMD) is a multifactorial disease that includes genetics, diet, environment, smoking and age as risk factors.  In countries whose citizens enjoy long life spans, the prevalence of the disease rises to 30% of individuals over the age of 75.  AMD adversely affects reading and driving vision and thus the socioeconomic impact is high.  In 2005, the first breakthrough was made in the identification of predisposing gene variants that significantly elevate the probability of developing AMD.  This gene was complement factor H (CFH), a component of the inborn (innate) immune system.  Subsequently, additional predisposing genes have been identified.   Among these are two candidates named ARMS2 and HTRA1.  The function of ARMS2 is currently unknown whereas HTRA1 is probably involved in homeostasis of the extracellular matrix.  Among the predisposing AMD gene variants CFH and ARMS2/HTRA1 provide the highest odds for developing AMD.  The cell biology of these genes in health and disease will be discussed in this seminar.