On the occasion of World Sight Day and in line with this year’s #LoveYourEyes theme, we invited BGI Genomics Product Manager River Ren to share his thoughts on the importance of eye disease prevention and latest updates for the treatment of hereditary diseases, such as Granular Corneal Dystrophy (GCD).

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

RR: We see a slow but steady improvement. Periodic new threats such as Monkeypox remind us that the future of global healthcare lies in investing in more robust healthcare systems to improve access to detection, screening and treatment to people in need.

As for eye disease, it is estimated that 1.1 billion people currently live with vision loss that is often untreated. Hence, World Sight Day 2022 aims to encourage individuals to take care of their own eye health. It's time to accelerate accessible, inclusive and affordable eye care for everyone, everywhere.

In particular, I believe the use of the latest molecular techniques is a real breakthrough. For many eye diseases, physicians no longer say "I’m sorry, there is nothing we can do." Faster, more affordable genetic tests mean more accurate diagnosis. And gene therapy progress provide new treatment options for inherited eye pathologies such as retinitis pigmentosa.

Q: When it comes to correcting myopia, what is the most common procedure currently in use, and what’s your opinion of it? 

RR: Although we have no clinical trials to rely on in regard to appropriate point of intervention based on either age or refractive status, we have to consider that since myopia progresses more quickly in younger children, early diagnosis and treatment are crucial. Current options include eyeglasses, contact lenses or refractive surgery. And of course, personalized therapy and treatment must be selected based on factors like patient's lifestyle, age, maturity, and refractive error.

Q: We know granular corneal dystrophy (GCD) is a hereditary disease that affects the cornea, but what are the most common symptoms, and what does it lead to?

RR: GCD is a rare, slowly-progressing condition that affects the middle layer of the cornea in both eyes. Symptoms may go unnoticed until corneal erosions 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 dystrophies get worse slowly and it may take years, even decades before noticing the problem, why is early detection helpful to the patient?

RR: I want to emphasize that GCD is a hereditary disease. Early diagnosis is, therefore, essential. Genetic diagnostic tools, combined with ongoing advances in gene therapy, regenerative and cell augmentation therapy pave the way for new effective treatments that can substantially improve patients' quality of life.

Surgical procedures, such as sublayer corneal transplantation, are also available. Research shows that for GCD patients, laser eye surgery (LASIK), rather than improvement, often leads to TGFBI gene mutation causing a worsening in vision, even blindness.  

To address this clinical issue, our GCD detection kit can detect TGFBI’s most common mutation, so that the safety of the patient’s cornea is assured.

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

RR: Avoiding looking directly into the sun and picking our eyes with unwashed fingers are common sense habits to maintain eye health. Let me also share five habits that will make a difference not only in terms of eye disorder prevention but also for other health conditions such as diabetes: 1. eat a balanced diet; 2. get plenty of sleep; 3. limit time on computers and mobile devices; 4. exercise regularly; 5. quit smoking.

Q: To wrap up our conversation on a meaningful note: Of the 1.1 billion people who live with vision loss globally, 90% of those cases are completely avoidable. How can we make eye care more accessible?  

RR: To eliminate inequalities in access and provision of eye care across population, we need to carefully plan these eye care services and listen to population needs, while still ensuring quality.

Companies like BGI Genomics must conduct, together with local health ministries, public awareness campaigns emphasizing the importance of eye care. Empowering the public, specifically underserved populations, is key to making them aware of their options for eye care needs, demand and services.

Let me finish by underlining the importance of genetic studies for discovering new treatment targets. Eye care can hugely benefit from future technological advances; research is key to ensuring such advances impact clinical care and people's lives.

Granular Corneal Dystrophy (GCD) SNP Detection Kit

BGI Genomics' Granular GCD SNP Detection Kit has obtained CE-IVDD approval. This detection kit is developed for the detection of single nucleotide polymorphism of GCD-causing gene mutation.

About BGI Genomics

BGI Genomics, headquartered in Shenzhen China, is the world’s leading integrated solutions provider of precision medicine. Our services cover more than 100 countries and regions, involving more than 2,300 medical institutions. In July of 2017, as a subsidiary of BGI Group, BGI Genomics (300676.SZ) was officially listed on the Shenzhen Stock Exchange.