Macular Degeneration and PXE. What is macular degeneration? What is Age-Related Macular Degeneration? Macular degeneration, a progressive disease, is the breakdown or damage to the macula, a part at the back of the eye that is responsible for seeing fine details clearly. When the macula is damaged, one experiences darkness or blurriness in the center of vision, but the peripheral is not affected. There are two types of age-related macular degeneration, dry and wet: There are a number of factors in the development of agerelated macular degeneration. Risk factors include, but are not limited to: age (especially over 60 years), smoking, diet, blood pressure, sunlight, genetics, and gender. As a person ages, the macula may thin slowly: the retinal cells die off and are not regenerated. Around 10-15% of those diagnosed with dry type will develop the wet type, which develops more suddenly. Dry: This is the most common form, where the tissues of the macula become thinned; Wet: This is the more damaging form, where abnormal blood vessels grow behind the macula, causing blood or fluid leakage, and possibly scarring, if left untreated. What eye functions are affected and to what extent? The macula is a small (6mm diameter) oval-shaped yellow spot near the center of the retina at the back of the eye. In the center of the macula is the fovea, a small area which contains the largest concentration of cone cells in the eye. Thus, the macula is responsible for seeing central vision, fine details like color, and high acuity, or sharp vision. Loss of function varies depending on which part of the macula is affected. Loss of function in the photoreceptor cells Loss of central vision Causes legal blindness Damaged parts are permanently lost What are the symptoms? The loss of ability to see objects clearly Seeing straight lines as wavy Vision is distorted Loss of clear colors A dark empty area in the center of vision Objects may appear as the wrong shape or size Difficulty in reading or seeing things up closely Increasing difficulty adapting to low light levels What are the implications? Vocationally, blurred vision will affect reading and close work activities. Avocationally, the greatest risks are with driving. Central vision also affects the ability to recognize faces. These implications affect a wide spectrum of lifestyle for a patient. It is important that accommodations are generalized from home to school/work/hobby. What are the common treatments? Treatment can’t reverse the effects of macular degeneration, but it may slow the progression of the disease. Both juvenile and age-related macular degeneration have new treatments in study and practice. Treatments include but are not limited to: References: What is Juvenile Macular Degeneration, or Dystrophy? This term is inclusive for several rare, inherited conditions. A result of faulty genes in one or both parents, symptoms may first appear in childhood or early adulthood. Juvenile macular dystrophies cause the loss of central vision as a result of damage to the macula, the most detail sensitive part of the retina, and some affect peripheral vision also. Examples of juvenile macular dystrophies are Stargardt’s Disease, Best Disease, and Juvenile Retinoschisis. Other inherited dystrophies include Sorsby’s, Pattern, Bull’s Eye, Vitamins Life-style changes such as diet Regular eye exam schedule Kellogg . (2014). Patient Care, Macular Degeneration. Retrieved June 28, 2014, from http://www.kellogg.umich.edu/patientcare/conditions /macular.degeneration.html Montgomery, T. (2014). Anatomy, Physiology, and Pathology of the Human Eye. Retrieved June 28, 2014, from http://www.tedmontgomery.com/the_eye/ Mayo Clinic Staff. (2014). Dry macular degeneration. Retrieved June 28, 2014, from http://www.mayoclinic.org/diseasesconditions/maculardegeneration/basics/definition/con-20075882 Mayo Clinic Staff. (2014) Wet macular degeneration. Retrieved June 28, 2014, from http://www.mayoclinic.org/diseasesconditions/wet-maculardegeneration/basics/definition/con-20043518 The Dictionary of Eye Terminology, 3rd Ed. Cassin B., Solomom, S.A.B. Macular Societies. (2014). Dystrophies. Retrieved July 10, 2014, from http://www.macularsociety.org/about-macularconditions/Dystrophies