Genetic Macular Diseases

Some genetic disorders are inherited from our parents, while other genetic diseases are caused by acquired changes or mutations in a preexisting gene or group of genes. Mutations can occur either randomly or due to some environmental exposure. Genetic macular diseases include:

Macular Dystrophy – Linked to inherited genetic mutations, macular dystrophy causes deterioration of the inner back lining of the eye where the retina and light-sensitive cells (photoreceptors) are found. When the macula is damaged or scarred due to macular dystrophy, central vision is affected — and this can lead to blindness in some cases.

Choroideremia – Choroideremia is a rare form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness followed by peripheral vision loss and progressing to loss of central vision later in life.

Retinitis Pigmentosa – Retinitis pigmentosa (RP) is a genetic disease that initially causes loss of peripheral and night vision. As the disease progresses, central vision loss occurs.

Stargardt Macular Degeneration – Also known as juvenile macular degeneration, this genetic eye disorder causes progressive vision loss. In most people with Stargardt macular degeneration, a fatty yellow pigment (lipofuscin) builds up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. In addition to central vision loss, people with Stargardt macular degeneration have problems with night vision that can make it difficult to navigate in low light. Some affected individuals also have impaired color vision. The signs and symptoms of Stargardt macular degeneration typically appear in late childhood to early adulthood and worsen over time.

There are many other genetic macular diseases, such as:

  • Achromatopsia
  • Best’s Disease
  • Congenital Stationary Night Blindness
  • Juvenile Retinoschisis
  • Liber Congenital Amaurotic
  • Pattern Dystrophy
  • Rod/Cone Dystrophy
  • Stickler Syndrome
  • Usher Syndrome

To learn more about genetic macular diseases, contact Associated Retina Consultants at 602-242-4928 or associatedretinaconsultants.com. Our doctors diagnose and treats many conditions in Phoenix.

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