ABETALIPOPROTEINEMIA (BASSEN-KORNZWEIG SYNDROME) Retinopathy


Abetalipoproteinemia, also known as Bassen-Kornzweig syndrome, is a rare genetic disorder that affects the body's ability to absorb and transport fats and fat-soluble vitamins. One of the ways that abetalipoproteinemia can affect the eyes is by causing retinitis pigmentosa, a condition that causes vision loss.

Retinitis pigmentosa is a degenerative eye disease that affects the retina (the light-sensitive layer at the back of the eye). It is characterized by the gradual loss of photoreceptor cells (cells that detect light and send signals to the brain) and the accumulation of pigment in the retina. This can cause vision loss and may lead to blindness in severe cases.

Abetalipoproteinemia can also cause optic atrophy, a condition in which the optic nerve (the nerve that carries visual information from the eye to the brain) becomes thin and weak. This can cause vision loss and other visual problems.

In conclusion, abetalipoproteinemia can affect the eyes by causing retinitis pigmentosa and optic atrophy, both of which can lead to vision loss and other visual problems. It is important for people with abetalipoproteinemia to receive regular eye exams and to follow the recommendations of their eye care professional to monitor and manage their eye health.



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