World Sight Day Feature

mark World Sight Day In keeping with this year’s #LoveYourEyes theme, BGI Genomics Product Manager River Ren shares his thoughts on the importance of eye disease prevention and the latest updates for treating genetic diseases, such as granular corneal dystrophy (GCD).

Q: As we approach World Sight Day on October 13, what direction do you see eye health care taking globally?

RR: We are seeing a slow but steady improvement. Periodic new threats like monkeypox remind us that the future of global healthcare lies in investing in more robust healthcare systems to improve access to detection, testing and treatment for people in need.

As for eye diseases, it is estimated that 1.1 billion people currently suffer from vision loss that often goes untreated. Hence, World Sight Day 2022 aims to encourage individuals to take care of the health of their eyes. It’s time to accelerate accessible, comprehensive, and affordable eye care for everyone, everywhere.

In particular, I think using the latest molecular technology is a real breakthrough. For many eye diseases, doctors no longer say ‘I’m sorry, there’s nothing we can do’. Faster, more affordable genetic testing means a more accurate diagnosis. The advancement of gene therapy is providing new treatment options for inherited eye diseases such as retinitis pigmentosa.

Q: When it comes to correcting myopia, what is the most popular procedure currently, and what do you think about it?

RR: Although there are no clinical trials to rely on regarding the appropriate point of intervention based on age or refractory status, we have to keep in mind that because myopia develops more rapidly in younger children, early diagnosis and treatment are crucial. Current options include eyeglasses, contact lenses, or refractive surgery. Of course, treatment and personalized treatment should be selected based on factors such as the patient’s lifestyle, age, maturity, and refractive error.

Q: We know that granular corneal dystrophy (GCD) is an inherited disease of the cornea, but what are the most common symptoms, and what leads to it?

RRGCD is a rare condition that develops slowly and affects the middle layer of the cornea in both eyes. Symptoms may go unnoticed until a corneal erosion forms, causing less clear vision due to clouding of the cornea later in life. Other symptoms include sensitivity to light, eye discomfort, or pain.

Q: Since corneal dystrophy slowly worsens and it may take years or even decades before a problem is noticed, why is early detection beneficial for the patient?

RR: I want to emphasize that GCD is a genetic disease. Therefore, early diagnosis is essential. Genetic diagnostic tools, along with ongoing advances in gene therapy, regenerative therapy and augmentation, are paving the way for new effective treatments that can dramatically improve patients’ quality of life.

Surgical procedures, such as sub-layer corneal transplantation, are also available. Research shows that for patients with GCD, laser eye surgery (LASIK), rather than improvement, often leads to TGFBI The genetic mutation causes deterioration of vision, and even blindness.

To address this clinical issue, a GCD detection kit can detect it TGFBIIt is the most common mutation, so that the integrity of the patient’s cornea is ensured.

Q: What are some of the basic habits of healthy eyes and related disease prevention that have been discovered in the very recent past?

RR: Avoiding looking directly at the sun and catching our eyes with unwashed fingers are common sense habits to maintain eye health. Let me also share with you five habits that will make a difference not only in terms of preventing eye disorders but also in other health conditions such as diabetes: 1. Eat a balanced diet; 2. Get plenty of sleep. 3. Determine the time on computers and mobile devices. 4. Exercise regularly. 5. Quit smoking.

Q: To conclude our conversation on a meaningful note: Of the 1.1 billion people who suffer from vision loss globally, 90% of these cases are completely avoidable. How can we make eye care easier?

RRTo eliminate inequality in access to and provision of eye care among the population, we need to carefully plan for these eye care services and listen to the needs of the population, while ensuring quality.

Companies like BGI Genomics, along with local health ministries, should conduct public awareness campaigns emphasizing the importance of eye care. Empowering the public, specifically underserved groups, is key to making them aware of their choices regarding eye care needs and services.

Let me conclude by emphasizing the importance of genetic studies to discover new therapeutic targets. Eye care can benefit greatly from future technological developments; Research is key to ensuring that these developments impact clinical care and people’s lives.

About the BGI Granular Atrophy Screening Kit

Granular GCD SNP detection kit was obtained from BGI Genomics CE-IVDD Approval. This detection kit was developed to detect single nucleotide polymorphisms of the GCD-causing gene mutation.

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