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What are the phenotype effect of tay - sachs disease?

red spot on the retina of the eye


What genetic disorder is characterized by retina defects?

Tay-Sachs disease has an eye spot that is red on the back of the retina.


What is the significance of the cherry red macula in the diagnosis of Tay-Sachs disease?

The cherry red macula is a key sign in diagnosing Tay-Sachs disease. It is a red spot in the eye that indicates damage to the nerve cells in the retina. This finding, along with other symptoms, helps doctors identify the disease early on.


Who discovered the tay sachs disease?

''Tay-Sachs'' was named after Warren Tay, an ophthalmologist who discovered the occurring red spot in the retina in 1881, and Bernard Sachs, who described the cellular changes related to this disease in 1887.


Tay-Sachs disease is a human?

Tay-Sachs disease is a human genetic disorder.


What effect does Tay Sachs disease have on the body?

what effect does Tay-sachs disease have on the body?


If you have a cherry red spot in your retina could you just be a carrier of Tay Sachs Disease?

Laboratory tests are required to determine if you are a carrier of Tay Sachs Disease. A cherry red spot in your retina is a symptom of the disease itself.


What system or part of the body does tay sachs disease affect?

what effect does Tay-sachs disease have on the body?


What medical conditions are associated with the presence of a cherry red spot in the eye?

A cherry red spot in the eye can be associated with medical conditions such as Tay-Sachs disease, Niemann-Pick disease, and central retinal artery occlusion.


Can a person with the Tay-Sachs disease live a healthy life?

A person with tay sachs can live a healthy life but still battles the many limitations of Tay sachs disease. Depending on the type of tay sachs, Classic, Juvenile onset, and Late Onset depends how healthy a life a person with tay sachs disease.


How often does Tay-Sachs disease occur in the population?

About 16 cases of Tay-Sachs disease are diagnosed each year.


What are other names for tay sachs disease?

Tay-Sachs disease is abbreviated to TSD and is also known as GM2 gangliosidosis or Hexosaminidase A deficiency.