World Keratoconus Day: All about the eye condition that could lead to permanent vision loss

World Keratoconus Day: Keratoconus is a rare degenerative eye condition where the dome-shaped outer lens of the eye called cornea becomes cone-shaped because of thinning due to this progressive, degenerative disorder. It can lead to vision distortion and if left untreated for a long time, it can also cause permanent blindness. Recently, late actor Puneeth Rajkumar's cornea was donated to four patients out of which two suffered from Keratoconus. Although two corneas from a donor are usually transplanted into two corneal blind patients, but in case of actor Puneeth Rajkumar, his corneas were sliced into four parts and went to four different patients.

World Keratoconus Day is observed annually on November 10 to spread awareness about this rare eye condition.

"Keratoconus usually occurs during the teenage years however, it can also start in the childhood years. In this condition, the cornea shape changes over many years but the change is more rapid in younger patients," says Dr. Aarti Heda, Consultant Ophthalmologist (Pune) & Medical Consultant of Entod Pharmaceuticals.

She also talks about the symptoms and treatment of the eye condition in detail.

What is Keratoconus?

The outer lens of the eye, the cornea is dome-shaped like a ball. When the structure of the cornea is not strong enough, it bulges outward and this condition is known as keratoconus.

"There are tiny protein fibres in the eye known as collagen that keep the cornea in place. When the fibres become weak, the cornea starts to lose its shape and adopts a shape similar to that of a cone," says Dr Heda.

Symptoms of Keratoconus

As the shape of the cornea changes to a cone in this condition, the front expands which makes vision near-sighted. Objects that are far away appear blurred, according to the eye expert.

The common symptoms associated with keratoconus are:

* Double vision on viewing with one eye

• Light streaks

• Blurry vision

• Bright lights seem to have halos around them

How Keratoconus could lead to blindness

If not treated on time, the eye condition can have several side-effects. While some may experience pain in the eyes, in rare cases, people may lose their vision permanently.

"The other side effect of keratoconus is corneal scarring which makes it difficult for patients to wear contact lenses. Eyeglasses also prove to be of little help in such scenarios," says Dr Heda.

Treatment of Keratoconus

The treatment of keratoconus usually depends on the progression and stage of the disorder. During the early stages, nearsightedness and blurry vision can be tackled to some extent with prescription eyewear. An ophthalmologist can suggest different options or procedures to treat the condition, some of which are:

Soft Contact Lenses or Eyeglasses: In the case of mild keratoconus, soft contact lenses or prescription eyeglasses can correct distorted and blurry vision. While contact lenses and glasses cannot stop the progression of the keratoconus, it is crucial to get the eyes checked on a timely basis to take care of the changing vision.

Specialised Lenses: Hybrid lenses are soft on the outer ring and hard in the middle and are often recommended for keratoconus. Apart from that, scleral lenses are also recommended that go over the cornea without touching it. Such lenses are beneficial in treating vision issues related to this disorder.

Intacs: Intacs are corneal implants, surgically placed into the eyes to reshape and flatten the cornea. They are used for treating myopia and astigmatism related to keratoconus.

Collagen cross-linking: In this procedure, eye drops are used along with a special ultraviolet light to make the cornea stronger and keep it from bulging forward.

Corneal Transplant: In advanced cases of keratoconus where the cornea is severely damaged, a transplant surgery to replace the affected cornea with a donor cornea is done by an ophthalmologist. The patient may require contact lenses afterwards.

 

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Using CRISPR to switch off pain gene becomes a possibility with new study

A path-breaking study reports success in disabling an important gene that is responsible for inducing the sensation of pain. This discovery could be of invaluable assistance to millions of patients with chronic pain, helping them to manage their condition better and live with a vastly better quality of life.

The tool - CRISPR

The gene therapy was brought out by scientists from a California startup called Navega Therapeutics. The basis of this technique is gene therapy, making planned and selective alterations in the patient’s DNA to repress the expression of a gene that is responsible for sending the pain signals up the nervous network in the spine.

The tool used to alter the DNA is the powerful CRISPR editor. This has already proved its worth in a host of laboratory gene-editing procedures, but clinically, its use has largely been restricted to rare inherited medical conditions.

For instance, last month, a patient suffering from sickle cell anemia due to the production of abnormal hemoglobin because of a gene defect was successfully reverted to having normal hemoglobin using this method.

CRISPR functions by means of homing molecules that identify and zoom in on a designated or target gene to be edited. Once identified, the target gene is removed neatly, the normal copy is inserted, and the cut ends spliced with the inserted sequence. In effect, a find-and-replace routine has been used.

The study

In the current study, the scientists were able to avoid the potential dangers of cutting out a gene altogether, which include inadvertently removing or interfering with normal neighboring regulatory or coding DNA. This could affect many functions in the body. Instead, they concentrated on regulating the expression of the gene of interest rather than removing it.

To achieve this, they used CRISPR to edit molecules attached to the basic DNA strand, called epigenetic molecules. These molecules are not part of the genetic information in the DNA but have an immense influence on the way the genes are expressed.

This is called epigenome editing and does not carry the same risk of permanently altering the genetic blueprint of the individual. The advantage is that the target gene can be prevented from being activated, or can be activated, according to need, while still remaining intact.

The target

The gene is called SCN9A. It was back in 2006 that certain mutations in this gene were found to deprive the affected individual of the ability to feel pain. This was because the mutated gene down-regulated the passage of the pain signals across the neural pathway, by controlling certain molecules involved in this process, found on the cell surface of the neurons.

The researchers then focused on using this to treat pain without the risks and adverse effects of opioid medication. They tried to edit the epigenetic marker that activated this pathway using CRISPR inserted into a viral vector. The virus used is a harmless one.


These treated viral particles were inserted into the spine so that they can enter the nerve cells there. The scientists hoped that once inside the cell, the virus would release the CRISPR tool as it disassembled itself in preparation for replication. The gene editor would then, presumably, carry out its task of editing the epigenetic marker that activates the SCN9A gene.

The results

The first round of testing of the therapy on mice has successfully concluded, says Moreno. “We are really excited because we have seen, in three different pain models, a decrease in overall pain.” 
Though the researchers found that they could not completely silence the pain because not all nerve cells were penetrated by the viral vector, there was a significant reduction.

Moreover, the degree of pain reduction was tunable, as with conventional pain medication. The more virus they injected, the greater was the pain relief, but it lasted much, much longer than with a painkiller.

The big benefit of the current therapy is that unlike current approaches that focus on relieving pain by administering opioid-based medication, it doesn’t carry the risk of addiction. At present, the US is facing an unprecedented two million-strong caseload of opioid addiction due to improper and over-zealous prescription of opioids for the treatment of pain.

Moreno cites the case of cancer patients who are unable to tolerate chemotherapy because of the intense associated pain, even though they know it could save their lives. The paradox with chemotherapy for cancer is that higher doses of these cytotoxic drugs increase the chances of surviving cancer-free for a longer time – but may leave the survivor with chronic pain.

In many centers, therefore, patients on chemotherapy are given morphine to dull their pain. This may, however, leave them unable to function normally because of the associated somnolence and tiredness.

On the other hand, the effect is reversible, which is important in allowing people treated in this way to feel pain normally once their need for dulled pain is no longer present, such as following the termination of chemotherapy.

The future

The American scientists now want to begin testing it in human patients from the next year. If it is proved to be medically safe and clinically effective, these researchers could have helped to bring about a dramatic reduction in suffering for a vast army of people with terminal painful illnesses and with chronic pain. However, the earliest date at which approval is envisaged is five years from now.

The other side of the discovery was also raised by Urnov: what if people used it to produce humans who could no longer feel pain and could, therefore, fight to the death without fear? In the current world scenario, such a terrifying possibility also needs to be considered for this exciting new discovery– a point not missed by Russian President Vladimir Putin.

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Man With a Suspected Bug Bite Was Diagnosed With Leukemia

When an Ohio resident went to the doctor with what he thought was an infected bug bite that wouldn’t go away, the last thing he expected was to be admitted to the ER and scheduled an urgent appointment with an oncologist. The harmless 'bug bite' turned out to be something a lot more serious, a truly dreaded diagnosis - leukemia.
 

This man was a 46-year-old, who got a small bump on his foot that he first thought was a mosquito or spider bite when he first noticed it in August of 2018. Some time has passed, but the bump hadn't diminished at all. On the contrary, it got bigger and looked inflamed, so he went to his physician, who, like him, suspected an infected bite and prescribed an antibiotic to treat the infection.

The antibiotic didn’t help, so the puzzled doctor prescribed a stronger antibiotic, which didn’t yield the expected relief either. That's when he was admitted to the emergency room, and the blood tests revealed that the lump was actually a symptom of acute myeloid leukemia, a rare, yet very dangerous type of cancer.

This type of cancer affects the blood and bone marrow. Abnormal blood cells affected by the cancer build up in the vessels and bone marrow, interfering with normal blood circulation. Acute myeloid leukemia is characterized by rapid growth and demands urgent treatment. Typically, this type of leukemia doesn’t express itself in skin growths, the most widespread symptoms being the following:

• Increased susceptibility to infections
• Shortness of breath
• Fatigue
• Easy bruising or bleeding
• Weight loss
• Loss of appetite
• Anemia
• Bone and joint pain.

At first, he couldn’t believe the diagnosis and thought the doctors confused him for someone else, but a subsequent confirmation by an oncologist followed. Immediately, he has undergone chemotherapy, and a subsequent bone marrow transplant as well.

Cleveland Clinic, where the man was treated, reported that he is currently in remission, and today, he took upon himself to raise awareness about health, especially among men, urging everyone to undergo preventative checks on a regular basis. “The hour it takes to go get a checkup could help prevent months of health problems,” he points out.

So remember, a bug bite that lingers for more than a week or two is a concern that requires medical attention, as it’s likely not a bug bite at all. Similarly, something that looks like a minor symptom that continues for a long time or any unusual symptoms, too, may point to a greater problem.

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Researchers Identify Second Gene Mutation Linked To HIV Resistance

A rare genetic mutation that causes a form of muscular dystrophy affecting the limbs also protects against HIV infection, Spanish scientists reported Thursday.

The breakthrough comes a decade after an American  known as the "Berlin Patient," became the first person cured of HIV after a bone marrow transplant from a donor with a mutation of the CCR5 gene.

The newly-discovered mutation concerns the Transportin 3 gene (TNPO3) and is far more rare.

It was identified several years ago among members of a family in Spain who were suffering from type 1F limb-girdle muscular dystrophy.

Doctors studying the family learned that HIV researchers were interested in the same gene because it plays a role in transporting the virus inside cells.

They then got in touch with geneticists in Madrid, who took blood samples from those family members and infected the blood with HIV -- revealing a welcome surprise.

The lymphocytes -- white blood cells that are an important part of the immune system -- of people with the rare muscular illness were naturally resistant to HIV, it emerged.

"This helps us to understand much better the transport of the virus in the cell,"  a virologist  and co-author of a paper told.

HIV is among the most studied viruses, he said, adding however that much remained to be learned, such as why five percent of patients who are infected do not develop AIDS.

"There are mechanisms of resistance to infection that are very poorly understood," he said.

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