D2I2.
degenerative⚑ High burden in India

Glaucoma

is a group of eye diseases that can lead to damage of the nerve, which transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of sight" because the loss of vision usually occurs slowly over a long period of time. A major risk factor for glaucoma is increased pressure within the eye, known as pressure (IOP). It is associated with old age, a family history of glaucoma, and certain medical conditions or the use of some medications. The word glaucoma comes from the Ancient Greek word γλαυκός, meaning 'gleaming, blue-green, gray'.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Vision loss
  • ·eye pain
  • ·mid- pupil
  • ·redness of the eye
  • ·

How it's found

  • · eye examination

Treatment

  • ·Medication, laser,
The genetics, in one picture

Who a European-built risk score flags as “high-risk”

The score (PGS000350) was tuned so 10% of Europeanscross the “high-risk” line (the dashed mark). Bars reaching past it are over-flagged; bars well short are under-flagged — either way the ruler is mis-set for that group.

European
10%
Gujarati
13%
Punjabi (Lahore)
17%
South Asian (all)
17%
Telugu (India)
17%
All-India · GenomeIndia
19%
Bengali
19%
Sri Lankan Tamil
20%

Share above the European top-10% cutoff. The All-India row is computed on GenomeIndia (≈10,000 genomes); the per-subpopulation rows on 1000 Genomes. Analytical mean-shift, not validated against Indian outcomes. See methods.

Did you know?
A glaucoma risk score double-flags Sri Lankan Tamils
PGS000350 marks 20.2% of Sri Lankan Tamils as high-risk against a 10% design target - a 2x over-call from ancestry mis-calibration.
↓ Card
Source: D2I2 PRS analysis (1000 Genomes phase 3)
India carries the world's second-largest glaucoma burden - driven by a different gene
~12 million Indians have glaucoma and ~5 million are blind from it; CYP1B1, not the Western MYOC gene, dominates the genetics here.
↓ Card
Source: Mol Vis 2009 (Indian POAG/JOAG)

The sections below are general education drawn from public guidelines (NHS, Mayo, CPIC, WHO, ICMR). They are not individually reviewed by a clinician and are not medical advice — always talk to a doctor about your own health.

When to see a doctor

Usually fine

Glaucoma often has no early symptoms, so a regular eye test is the main way to catch it early, especially after age 40 or with a family history.

See a doctor

See an eye doctor if you notice gradual loss of side vision, blurred patches, or trouble seeing in dim light, or if a close relative has glaucoma.

Get care urgently

Get urgent eye care for sudden eye pain, redness, headache, blurred vision, or seeing halos around lights, sometimes with nausea. This can be a sudden rise in eye pressure that needs fast treatment to protect sight.

General guidance, not a diagnosis. When in doubt, see a doctor.

Questions to ask your doctor

  • ?Which eye tests confirm this and measure my eye pressure?
  • ?Given my family history, how often should I be tested?
  • ?Is my vision loss stable, or is it changing?
  • ?What symptoms mean I should seek urgent eye care?
  • ?Should my close relatives get their eyes checked?
  • ?How will you monitor my eyes over time?

What to note before your visit

  • ·any changes in side or night vision
  • ·family history of glaucoma or blindness
  • ·past eye pressure readings if you have them
  • ·current eye drops or medicines you use

Test yourself

0/4 answered

4 quick questions on Glaucoma. Tap an answer to check it.

1. Glaucoma mainly damages which part of the eye?
2. Why is glaucoma called the 'silent thief of sight'?
3. Which is a major risk factor for glaucoma?
4. How is glaucoma treated?
An open question — could you help answer it?

A European-trained for flags 20.2% of Sri Lankan Tamil people as high-risk - vs the 10% it was designed for. That's a 2.0x : the score's 'average' is set to European , so it systematically mis-reads South Asians (a +0.53 SD ).

A study that would help: PGS000350 on an Indian (define the threshold on South-Asian, not European, risk) and quantify how many people get correctly . A concrete, fundable validation study once a + Indian sample is in hand.

Genomics deep dive · verified

The second-largest glaucoma burden on Earth — driven by a gene the Western playbook underweights

The finding

India has an estimated 12 million people with and around 5 million blind from it — the leading cause of irreversible blindness, and second only to China worldwide. Much of it is undiagnosed until sight is already lost.

Why India specifically

The differ from the West. In Indian patients CYP1B1 is a predominant cause — not only of primary but also of adult and juvenile open-angle glaucoma — with recurrent Indian such as E229K and R368H. Western open-angle genetics lean on MYOC, which explains only ~2–4% of Indian cases. A panel built on Western assumptions underweights the very gene that matters most here. (Our -score analysis independently flags a large South-Asian for open-angle glaucoma.)

What's known — and the gap

The major Indian CYP1B1 are described, and early detection prevents blindness. The gap is turning that into cheap, India-tuned — especially for and juvenile , where an early saves a lifetime of sight.

A study you could fund

Validate a CYP1B1-first screen for high-risk Indian families ( and juvenile ) and measure how much earlier it catches cases than pressure-and-symptom alone.

Plain-language summary adapted from Wikipedia. Not medical advice.