Sorsby’s fundus dystrophy

Sorsby's macular dystrophy


Type of disease: Rare conditions

Sorsby’s macular dystrophy, also known as Sorsby’s fundus dystrophy, is a genetic eye disorder that causes vision loss that gets worse with time (progressive). This condition affects the macula, which is an area on the back of the eye (retina) that helps with vision used for detailed tasks such as reading, driving, and recognizing faces (sharp central vision). Early stages of the disorder begin around age 40, and are characterized by the buildup of two substances around the cells of the macula: a fatty yellow substance (lipofuscin) and a hard extra-cellular material (drusen). Together, these substances cause damage to the cells of the macula (macular dystrophy), which leads to blurry or distorted central vision. Individuals with this condition can also develop abnormal blood vessels that can leak and scar the macula, which is known as choroidal neovascularization (CNV). Sorsby’s macular dystrophy does not usually affect the vision on the side of the eyes (peripheral) or the ability to see at night.

Sorsby’s macular dystrophy is caused by a change (mutation) in a gene called TIMP3 and is inherited in an autosomal dominant manner, meaning a mutation in only one of the two copies of the gene a person has is enough to cause the condition. There is not a cure for this condition. However, if identified early enough, medications can be injected into the eye to slow the formation of harmful blood vessels. Good nutrition and protection from ultraviolet (UV) rays have also been shown to slow the progression of the disease. If you have been diagnosed with Sorsby’s macular dystrophy, talk with your doctor about all current treatment options. Support groups can provide additional information and connect you with others affected by this condition.

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