What are the complications of Tay Sachs disease?

As the disease progresses, development slows and muscles begin to weaken. Over time, this leads to seizures, vision and hearing loss, paralysis, and other major issues. Children with this form of Tay-Sachs disease typically live only a few years.

What happens in the body to cause Tay-Sachs disease?

Tay-Sachs disease occurs when the body lacks hexosaminidase A. This is a protein that helps break down a group of chemicals found in nerve tissue called gangliosides. Without this protein, gangliosides, particularly ganglioside GM2, build up in cells, often nerve cells in the brain.

What happens to a child born with Tay-Sachs disease?

Babies born with Tay-Sachs develop as expected in the first 3 to 6 months of life. Then, within months to a few years, they lose the ability to see, hear, and move. By age 2, most start having seizures. Unfortunately, children with the condition usually do not live past 5 years of age.

Who is most affected by Tay-Sachs disease?

Tay-Sachs disease (TSD) is a genetic condition that affects the nervous system. It is caused by an alteration in the HEXA gene on chromosome 15. TSD is more commonly seen in people who are of Ashkenazi Jewish or French-Canadian descent. Males and females are equally affected.

Why does Tay-Sachs cause blindness?

Since ganglion cells are absent in the foveolar region, this area retains the normal reddish appearance, producing the cherry-red spot. Axonal decay and loss of the ganglion cells leads to optic atrophy and blindness.

Who is the oldest person with Tay-Sachs?

Seth is currently the oldest child living with Tay-sachs. He was born on Feb. 23 2002, and by his first birthday he wasn’t sitting up on his own. His parents knew something was wrong.

What medications are used to treat Tay-Sachs disease?

Currently there is no cure for Tay-Sachs disease, and there are no therapies that slow the progression of the disease. Treatment aims to relieve symptoms and increase quality of life. For example, children with seizures may be treated with anti-seizure medicines.

What organs are affected by Tay-Sachs disease?

Tay-Sachs disease affects the nerve cells in the brain and spinal cord. Babies with Tay-Sachs lack a particular enzyme, which is a protein that triggers chemical reactions in cells.

How is Tay-Sachs disease diagnosed?

The diagnosis of Tay-Sachs disease may be confirmed by a thorough clinical evaluation and specialized tests such as blood tests that measure the enzyme activity levels of hexosaminidase A. Molecular genetic testing for mutations in the HEXA gene can confirm a diagnosis of Tay-Sachs disease.

What is the cherry-red spot in Tay-Sachs?

The accumulation of lipid in retinal ganglion cells that leads to a chalk-white appearance of the fundus called ‘cherry red spot’ is the hallmark of Tay-Sachs disease. It is also seen in others neurometabolic diseases as well as in central retinal artery occlusion.

What are retinas?

The retina is a layer of tissue in the back of your eye that senses light and sends images to your brain. In the center of this nerve tissue is the macula. It provides the sharp, central vision needed for reading, driving and seeing fine detail. Retinal disorders affect this vital tissue.

What is retinal vein occlusion?

Retinal vein occlusion is a blockage of the small veins that carry blood away from the retina. The retina is the layer of tissue at the back of the inner eye that converts light images to nerve signals and sends them to the brain.

What is Berlin edema?

Commotio Retinae or Berlin’s Oedema is grey-white discolouration of the retina due to disruption of outer segment photoreceptor layer following blunt trauma. This is caused due to contrecoup injury. Shock waves caused due to impact traverses the fluid- filled eye and then strike retina.

What is white without pressure?

White without pressure (WWP) describes a finding that your retina doctor may see when examining the peripheral retina. WWP is found in 15-30 percent of the population and is characterized by a discrete whitish-gray area in the far peripheral retina that is bordered by a dark line.

How long does commotio retina last?

Most cases resolve within 4 weeks of injury although some improvement can continue for up to 6 months. However, some patients can have permanent macular damage with absolute or relative scotoma.

What is a Rhegmatogenous retinal detachment?

Rhegmatogenous detachments are caused by a hole or tear in the retina that allows fluid to pass through and collect underneath the retina, pulling the retina away from underlying tissues. The areas where the retina detaches lose their blood supply and stop working, causing you to lose vision.

How is Rhegmatogenous treated?

Rhegmatogenous retinal detachment is an emergency, and all patients should be seen by an ophthalmologist on the same day that symptoms arise. The treatment consists of scleral buckle, removal of the vitreous body (vitrectomy), or a combination of the two. Anatomical success rates are in the range of 85% to 90%.

Does high blood pressure cause retinal detachment?

The higher the blood pressure and the longer it has been high, the more severe the damage is likely to be. High blood pressure can’t directly cause retinal detachment. But if you have high blood pressure, you are at a higher risks of retinal detachment.

How long does it take for vision to improve after retinal detachment?

After surgery for retinal detachment

During the post-operative period: Your eye may be uncomfortable for several weeks, particularly if a scleral buckle has been used. Your vision will be blurry – it may take some weeks or even three to six months for your vision to improve.

Can a retina detach twice?

The recurrence rate in the same eye was 21.3%. The incidence of recurrence retinal detachment was higher in patients who were male, middle age, and with poor preoperative vision, longer axial length, and scleral buckling. Recurrence usually occurred 3 months after surgery.

How many times can retina be reattached?

Most of the time, the retina can be reattached with one operation. However, some people will need several surgeries. More than 9 out of 10 detachments can be repaired. Failure to repair the retina always results in loss of vision to some degree.

Can retina damage be repaired?

Yes, in many cases an eye doctor can repair a damaged retina. While a patient may not experience completely restored vision, retinal repair can prevent further vision loss and stabilize vision. It’s important that patients get treatment for their damaged retinas as soon as possible.

How can I make my retina strong?

How to Improve the Health of the Retina

  1. Healthy and balanced diet. …
  2. Avoiding unhealthy foods and drinks. …
  3. Drinking plenty of water. …
  4. Regular exercise. …
  5. Wearing sunglass when out in the sun. …
  6. Quitting smoking. …
  7. Wearing eye protection. …
  8. Regular eye check-up.

Does retinal damage cause blindness?

Retinal damage is one of most common ailments of the eyes. The most common causes of retina damage are those related to old age, light damage or trauma. Retinal disorders can damage this vital tissue. They can affect your vision, and some can be serious enough to cause blindness.