Cracking the Code of Inherited Glaucoma: Precision Medicine in Action

Shahid Akhter, Consulting Editor, FEHealthcare, spoke to Dr. Arijit Mukhopadhyay, Professor of Precision Health at the University of Salford, UK, to know more about the impact of Genetic Screening and Early Intervention in Familial Juvenile Open-Angle Glaucoma

 

What are the current clinical challenges in managing glaucoma, especially in the context of inherited cases?

Glaucoma is a complex, heterogeneous condition with several subtypes—some of which, like Juvenile Open-Angle Glaucoma (JOAG), have a strong genetic basis and can be passed through generations within a family. It progresses silently, often going undetected until significant vision loss occurs – which is irreversible. However, unlike many other genetic conditions, glaucoma offers a unique window for intervention. If detected early, progression can be slowed—or even arrested—through clinical management. Genetic screening can thus become a critical tool in identifying at-risk individuals before symptoms appear.

 

Your core areas of research is the genetic basis of glaucoma—particularly in familial cases and you have  worked with a family affected by inherited glaucoma for over a decade. Can you share more?

Yes. We've been engaging with a multigenerational family in West Bengal for more than 10 years. This family carries a mutation in the Myocilin gene, known to cause an aggressive form of JOAG. In this family, those who inherited the mutation typically lost vision by age 18, often without symptoms until their early teens. This highly accurate predictable course of the disease gave us a unique opportunity: we knew the mutation, and we knew when the disease usually began. That opened the door for proactive clinical management.

 

How did you communicate the science and patient story to a wider audience?

In 2023, we produced a documentary titled The Vision of the Blind Lady, which is now followed by a sequel, Ripples of Light. These films chronicle the family's experience and demonstrates how genetic testing can be transformative in the lives of the common people – especially those who are less privileged. These two films has been able to inspire major stakeholders involved and had an impact in public awareness. Both films are available on YouTube and anyone can watch them. The work catalysed by the films is now being discussed at the level of influencing policy.

What’s the most recent clinical development in this family’s case?

Over the last two years, we identified three children in this family—each under the age of 10—who carry the specific mutation but showed very early clinical symptoms at the time of testing. At that time, they had no vision loss. Based on the high predictive accuracy, we anticipated that without intervention, they would definitely develop glaucoma and most likely become blind within 5–6 years.

 

What intervention strategy was implemented?

Working alongside ophthalmology specialists such as Dr Asim Sil, we initiated quarterly ocular monitoring. When early signs of disease onset were detected—before functional vision loss—Dr Sil performed surgery (trabeculectomy) on all three children. This took place approximately 14 months ago.

 

What has been the post-surgical outcome so far?

All three children are under monthly follow-up and are receiving topical eye drops to maintain their intra-ocular pressure. To date, there has been no measurable structural or functional decline of their vision. While we still require longer-term data, early results are promising and suggest that early genetic detection followed by pre-emptive surgical intervention can delay or halt disease progression in JOAG.

 

How are you scaling this genetic approach to benefit more patients?

We're developing a targeted next-generation sequencing (NGS) panel covering 20–25 genes associated with JOAG and POAG. The aim is to offer affordable and accessible testing, especially to patients with early-onset disease or family history. We’re collaborating with diagnostics companies and clinical partners to bring this to market at a cost significantly lower than current commercial panels.

 

Are you working toward national-level implementation?

We are currently forming a national consortium involving academic institutions, clinical centres, diagnostic companies, and non-profits. The goal is to integrate genetic testing into routine ophthalmic care and establish a framework for standardized screening across secondary and tertiary care settings in India.

 

What’s the broader impact of such a precision health initiative on glaucoma management in India?

Integrating genomics into glaucoma care enables risk-based stratification and personalized treatment. Early intervention reduces the burden of irreversible blindness and long-term treatment costs. The economic and social impact—especially in preventing disability in young adults—could be transformative for families and for national health systems.

 

What’s your vision for the future of this initiative?

If early studies confirm that genetic screening combined with timely intervention can significantly delay or prevent vision loss, we can demonstrate the cost-effectiveness of this approach. It can lead to reduced lifetime care costs and preservation of earning potential—especially in underserved communities. Backed by the University of Salford and our partners, we’re advocating for policy change in India and the UK. Ultimately, we hope to catalyse a global movement toward an improved health equity for eye health through precision genomics approaches.