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World Sight Day: Illuminating the Path to Better Vision with Whole Genome Sequencing and the Eye Disease Panels

World Sight Day: Illuminating the Path to Better Vision with Whole Genome Sequencing and the Eye Disease Panels



On World Sight Day, we focus our attention on the precious gift of vision and the importance of eye health. This day serves as a reminder that sight is a fundamental part of our well-being. In the world of genetics and healthcare, Whole Genome Sequencing (WGS) analysis and our panels dedicated to eye diseases stand as powerful tools that have the potential to revolutionize the way we understand, protect, and enhance our vision.


The Complexity of Vision Health


Our eyes are intricate marvels, and maintaining their health is paramount. However, vision conditions can be influenced by a combination of genetic, environmental, and lifestyle factors. While advances in ophthalmology have brought us closer to understanding eye diseases, Whole Genome Sequencing analysis offers a more comprehensive approach.




MyGenome Sequencing Test and Vision: A Clearer Picture


MyGenome Sequencing test, based on WGS analysis, delves deep into an individual's genetic code, offering insights that can illuminate the path to better vision:

  1. Early Detection of Genetic Risks: by analyzing your entire genome, MyGenome test can identify genetic variations associated with eye diseases such as glaucoma, age-related macular degeneration, and retinitis pigmentosa. Early detection of these risks allows for proactive management and preventive measures.


  1. Personalized Eye Care: your genetic data can guide ophthalmologists in tailoring eye care and treatment plans to your unique genetic profile. This leads to more effective interventions and improved vision outcomes.


  1. Understanding Hereditary Eye Conditions: if you have a family history of eye diseases, MyGenome test can help determine whether you carry genetic mutations linked to these conditions. This knowledge can empower you to make informed decisions about your eye health and take steps to reduce your risk.


The Ophthalmology Panel: Focusing on Vision Health


The genetic variants analyzed in this panel are closely related to or, potentially, the cause of major ophthalmologic conditions.

Ophthalmology panel is a comprehensive panel that tests for genetic variants associated with a wide range of eye disorders, including retinal diseases, optic neuropathies, and congenital cataracts. Eye disorders are caused by mutations in genes involved in the development and function of the eye, and this panel tests for genetic variants that are known to affect these processes.

This panel is designed for individuals with a family history of eye disorders or individuals with symptoms of the conditions, such as vision loss, color blindness, and cataracts


Discover the Ophtalmology Panel



Glaucoma Panel


Glaucomas are a group of eye disorders characterized by progressive damage to the optic nerve (often, but not always, associated with high pressure in the eye), leading to irreversible vision loss. The optic nerve can be damaged due to increased intraocular pressure.

This panel tests for genetic variants that are known to affect eye development and function, as well as genes involved in intraocular pressure regulation.

This panel is designed for individuals with a family history of glaucoma or individuals with symptoms of the condition, such as blurry vision or loss of peripheral vision


Discover the Glaucoma Panel



Hereditary Optic Neuropathy Panel


Leber hereditary optic neuropathy (LHON), or sudden vision loss, is an inherited form of vision loss. It begins with painless clouding or blurring in one or both eyes, and then worsens with a loss of sharpness and loss of color vision.

Hereditary optic neuropathy is a condition in which the optic nerve is damaged, leading to vision loss and blindness. Hereditary optic neuropathy is caused by mutations in genes involved in mitochondrial function and energy production, and this panel tests for genetic variants that are known to affect these processes.

This panel is designed for individuals with a family history of hereditary optic neuropathy or individuals with symptoms of the condition, such as vision loss or color vision abnormalities


Discover the Optic Neuropathy Panel



Hereditary Vitreoretinopathy Panel


HV are a group of congenital retina and vitreous degeneration, caused by genetic mutations in more than 20 genes and is characterazed by high risk of retinal detachment, early cataract, optically empty vitreous and neovascularization. Among involved genes we can find those codying for collagen and for potassium channels.

This panel is designed for those with a family history of hereditary vitreoretinopathy or symptoms of including conditions such as early cataract and retinal detachment.


Discover the Hereditary Vitreoretinopathy Panel



Non-syndromic Retinitis Pigmentosa Panel


Non-syndromic Retinitis Pigmentosa is a rare genetic condition that causes progressive vision loss and can lead to blindness. This panel analyzes genes associated with the condition, allowing for early detection and personalized treatment options for patients. This can benefit individuals who are experiencing symptoms of vision loss, as well as those with a family history of the condition, by providing them with information that can help guide their healthcare decisions.


Discover the Non-syndromic Retinitis Pigmentosa Panel





On World Sight Day, let us embrace the potential of MyGenome Sequencing analysis and the Dante Panels dedicated to eye disease in preserving and enhancing our vision. 

These tools not only provide a clearer picture of our genetic eye health but also empower us to take proactive steps to protect our sight. Together, we can work towards a world where everyone enjoys the gift of clear and vibrant vision.

Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions

Testing can also inform family planning decisions and provide reassurance for unaffected family members.

Your eyes are your window to the world, let's ensure that window remains open and bright.

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