Inherited Retinal Diseases

Inherited Retinal Diseases (IRDs) are a group of rare conditions that cause damage to the retina, often affecting cells known as rods and cones. When a disease is inherited, it runs in families. Dysfunctional genes, at least one, are the cause of Inherited Retinal dystrophy

The most common IRDs include:
• Retinitis pigmentosa (RP): This genetic disease causes cells in the retina to break down slowly over time. Symptoms typically begin in childhood, and most individuals eventually experience significant vision loss.
• Choroideremia: This is a rare, incurable, and progressive retinal dystrophy that causes vision loss in males. It is caused by a mutation in the CHM gene, leading to the degeneration of the retinal pigment epithelium (RPE), choroid, and photoreceptors.
• Achromatopsia: A rare, inherited condition that affects the retina and causes partial or total color blindness, as well as other vision issues. People with achromatopsia may see only black, white, and shades of gray, or they may be able to distinguish some colors.
• Juvenile Macular dystrophy (or Stargardt disease) is a rare genetic eye disease, which causes vision loss in children and young adults. It occurs when fatty material builds up in the macula. This is the small part of the retina needed for clear details in central vision. This fatty material can damage the cells in the macula.
• Cone-rod dystrophy is a rare genetic retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, which results in a variable appearance of the fundus. This condition usually presents with decreased visual acuity, central scotoma, photophobia, and altered color vision, then with night blindness, and loss of peripheral visual field.
• Leber congenital amaurosis (LCA)- is the most common cause of inherited blindness in childhood. LCA is found in two to three babies for every 100,000 births. LCD is a rare inherited eye disorder that causes severe vision loss at birth.
The prognosis for these diseases is never good. There is no treatment or cure in existence for most types of IRD. But there are ways to slow the progression of vision loss and preserve your sight for as long as possible. As a starting point to prolong your vision if these are in your family it is a good idea to have genetic testing done.




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