It is with heavy hearts that we announce the passing of Dr. Rahul Reddy. Click here to read more about Dr. Reddy

Genetic Macular Diseases

Heredity and genetics play a role in macular diseases. Aged-related macular degeneration (AMD) is the most common cause of severe vision loss among people aged 50 or older and affects nearly 10 million people in the United States. The 2 primary types of age-related macular degeneration are dry and wet. The dry form of AMD is more common, accounting for 80% of cases. Central vision loss is gradual but generally affects one eye at a time as the light sensitive cells in the macula, the back part of the retina that is responsible for the detection of light as well as color vision and finite details, break down. The wet form of AMD is less common and often leads to more severe vision loss than dry AMD. The wet form of AMD occurs when abnormal blood vessels start to grow beneath the retina leaking blood and fluid into the visual field. Research has found that a family history with a parent or sibling who has AMD increases the odds that an individual is three to four times more likely to develop age-related macular degeneration themselves. Juvenile macular degeneration is usually detected in late childhood or early adulthood. Signs and symptoms caused by these genetic macular diseases include progressive vision loss, impaired color vision and problems with night vision. Gene changes and mutations passed down through families affect the odds of developing these eye conditions. 

Parents often worry about any genetic disorders that may be passed to their children. As many genetic macular diseases develop much later in life, juvenile macular degeneration, which includes Stargardt’s disease, Best’s disease, and juvenile retinoschisis, may be something a family has to address in early years. Stargardt’s disease affects one in 10,000 children in the United States. Children develop this condition due to a specific gene inherited from their parents. If both parents carry a mutated form of the gene and one normal gene, the child is 25% likely to develop JMD. If the child only inherits one mutated gene, they will not develop the condition but can still pass it on. Best’s disease has 50/50 odds if just one parent carries the mutated gene. If the child does not develop JMD, they will not pass it on. Juvenile retinoschisis is related to an abnormal gene linked to the X chromosome. Women have a 50% chance of passing along the gene to both her sons and daughters while men with the genetic macular disease always pass it along to their daughters who will carry it, but it will not pass along to their sons. 

Other genetic macular diseases include macular dystrophy, choroideremia, retinis pigmentosa, achromatopsia, congenital stationary night blindness, liber congenital amaurotic, pattern dystrophy, rod/cone dystrophy, Stickler syndrome and Usher syndrome. 

If you are concerned about genetic macular diseases, there are tests available to better understand your risk while assessing your family history. Associated Retina Consultants can accurately diagnose any vision changes you may be experiencing and help you develop a treatment plan to preserve your vision. Contact our office today at 602-242-4928 or WEBSITE

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