Dr Sriram Simakurthy, Chief Medical Officer, Sankara Eye Hospital, Hyderabad

Sight is one of our most valued senses, which allows us to connect with the world around us. With
age, however, for millions of people, eyesight-related challenges begin with slight blurriness and
progressively lead to irreversible vision loss.
Among the many age-related eye conditions, age-related macular degeneration (AMD) is one of the
most common causes of vision loss in patients over the age of 50. As life expectancy increases in
India, the number of cases of AMD is also rising. This condition often presents with early symptoms.
Early counselling and identification are important for managing the condition better. Studies show
that our genes play a critical role in determining who develops age-related macular degeneration.
Understanding the genetic influence behind age-related blindness can help move toward earlier
diagnosis, personalised care, and targeted prevention strategies.

The Genetic Link
Lifestyle and environmental factors like age, smoking, and poor nutrition are known risk factors for
AMD. Genome studies have identified that genetics can also influence who is likely to develop AMD.
In age-related macular degeneration, one of the strongest genetic associations identified is with
variations in the CFH (Complement Factor H) gene. This gene plays a role in regulating inflammation
in the retina. Certain variants increase susceptibility to chronic inflammation, leading to damage of
the macula, the central part of the retina responsible for sharp vision. Other genes, such as ARMS2
and HTRA1, also influence how retinal cells respond to stress and ageing.
Early Detection Can Change the Story
The start of AMD does not mean inevitable blindness. Understanding an individual’s genetic
predisposition can enable doctors to recommend appropriate precautions to slow or mitigate its
progress. For people with high-risk genetic variants, ophthalmologists can provide individualised
recommendations such as:

 More frequent retinal examinations
 Diet modifications, including lutein and zeaxanthin supplementation
 Lifestyle changes that reduce oxidative damage
Why Genetic Insights Matter
Standard eye exams detect visible physical changes but often miss hidden genetic risk factors that
may silently influence disease development. Genetic testing empowers individuals to act early,
potentially mitigating disease before symptoms worsen. Since AMD often runs in families, knowing
one’s genetic risk can also help parents, siblings, and children understand and manage their own
risk.

Advances in genetic research are paving the way for personalised ophthalmology. Emerging
therapies aim to target specific molecular pathways influenced by genetic variants, particularly in
conditions like AMD and inherited retinal disorders. While genetic testing is not yet routine for all
age-related eye diseases, it is becoming an important tool in research and selected clinical settings.

From Awareness to Action
Vision loss due to ageing isn’t inevitable. Early detection can help identify AMD early and allow for
better management. The first step in protecting sight and quality of life is understanding your
genetic risk. Genes play a powerful but modifiable role in age-related blindness. By combining
genetic awareness with proactive eye care and healthy ageing strategies, it is possible to preserve
vision and quality of life well into later years.