Glaucoma Prevention: The Answer Lies in Genes

Highlights:

Glaucoma stands as the foremost contributor to permanent vision loss globally
The gradual impairment of the optic nerve, responsible for transmitting visual signals to the brain, is the underlying cause of vision loss in glaucoma //
The primary risk factors encompass both genetic and environmental factors, culminating in elevated intraocular pressure resulting from fluid buildup within the eye

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‘Recent advances in genetic studies have a promising role in preventing glaucomatous damage and preserving sight. #GlaucomaPrevention #Genetics’

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Glaucoma: Understanding the Burden

Glaucoma is a multi-factorial disease characterized by progressive damage to the optic nerve. It poses a significant public health concern and is the leading cause of irreversible blindness worldwide. It is associated with raised intraocular pressure (IOP) which results in progressive vision loss. People more than 60 years of age, family history of glaucoma, steroid users, diabetics, as well as those with hypertension and eye injury are at an increased risk of glaucoma.

It is estimated that 57.5 million people worldwide are affected by primary open-angle glaucoma (POAG). By 2040, it is expected that approximately 111.8 million people will suffer from glaucoma ().

Genetic Roadmap of Glaucoma Revealed
Scientists have revealed a novel, detailed genetic roadmap of glaucoma. Glaucoma is the leading cause of irreversible blindness.

Genetics and Glaucoma: The Insight Offered

More than 50% of cases of Glaucoma are diagnosed after permanent optic nerve damage takes place (). Current treatment options include medications to lower the pressure in the eyes and surgery to make alternative ways to drain excess fluid. However, none of these options are curative. The current treatment options only slow down the disease progression without targeting the primary pathology.

Taking note of the disease burden and the current treatment modalities to combat glaucoma, Genetics offers solutions that are novel and promising.

In gene therapy, genetic material such as DNA or RNA is injected into the eye with the purpose of achieving a therapeutic effect. An International research conducted by QIMR Berghofer () has significantly contributed to understanding the genetics of glaucoma. The research has found hundreds of new genes which pave way for targeting glaucoma genetically.

The understanding of these genes shall help in:

Understanding a person's risk of developing glaucoma by identifying risk factors.
Facilitating early diagnosis of glaucoma.
Developing genetic prediction tools that help in predicting the disease.
Identifying key genetic targets that could, for the first time, pave the way for novel treatments that could help in prevention of retinal damage that causes blindness.
Establishing genetic links between glaucoma and other genetic diseases like Diabetes and Multiple sclerosis.
Targeting retinal cells selectively for “Neuroprotection”, while understanding and modifying the role of pre-existing dug therapy in Glaucoma.

Gene Identified That Causes Severe Glaucoma in Children
Genetic mutation causes a severe form of glaucoma, which afflicts a significant portion of children enrolled in institutions for the blind worldwide.

Gene therapy in Glaucoma: The path ahead

In December 2017, the U.S. Food and Drug Administration (FDA) approved the first viral ocular gene therapy, Luxturna™, by Spark Therapeutics, Inc., for the treatment of one form of retinal childhood blindness ().

With the rapid development and evolving gene therapies, we are witnessing a new era in the treatment for glaucoma and other optic diseases. These emerging genetic technologies for treatment are going to provide better treatment modalities beyond just prescribing a drop to lower the pressure. Few years from now, our focus shall completely shift to strategies that help to keep our vision-providing cells happy and alive. That’s a revolution we can all look forward to.

References:

Epidemiology of Glaucoma: The Past, Present, and Predictions for the Future - (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7769798/)
Glaucoma: What’s new and what do I need to know? - (https://www.health.harvard.edu/blog/glaucoma-whats-new-and-what-do-i-need-to-know-2021031122104)
Genetics of Glaucoma Study - (https://www.qimrberghofer.edu.au/study/genetics-of-glaucoma-study/)
Is Gene Therapy an Option for Glaucoma? - (https://www.brightfocus.org/glaucoma/article/gene-therapy-option-glaucoma)

Source-Medindia

Quiz on Glaucoma
Glaucoma is a leading cause of blindness that may not cause any initial symptoms, thus resulting in the patient being oblivious of the condition. Here’s a quiz that will help to keep your knowledge on glaucoma up-to-date.