Glaucoma
Glaucoma is a group of eye diseases that can lead to damage of the optic 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 intraocular 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,
A European-trained for glaucoma flags 20.2% of Sri Lankan Tamil people as high-risk - vs the 10% it was designed for. That's a 2.0x mis-stratification: the score's 'average' is set to European , so it systematically mis-reads South Asians (a +0.53 SD mean shift).
A study that would help: Recalibrate PGS000350 on an Indian (define the threshold on South-Asian, not European, risk) and quantify how many people get correctly re-classified. A concrete, fundable validation study once a genotyped+phenotyped Indian sample is in hand.
The second-largest glaucoma burden on Earth — driven by a gene the Western playbook underweights
India has an estimated 12 million people with glaucoma 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.
The differ from the West. In Indian patients CYP1B1 is a predominant cause — not only of primary glaucoma 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 mis- for open-angle glaucoma.)
The major Indian CYP1B1 are described, and early detection prevents blindness. The gap is turning that into cheap, India-tuned — especially for and juvenile glaucoma, where an early saves a lifetime of sight.
Validate a CYP1B1-first screen for high-risk Indian families ( and juvenile glaucoma) and measure how much earlier it catches cases than pressure-and-symptom alone.
- Predominance of CYP1B1 mutations in Indian POAG/JOAG, Mol Vis 2009 ↗
- CYP1B1 Arg368His in North Indian glaucoma, 2019 ↗
- D2I2 PRS-transferability analysis (open-angle glaucoma, PGS000350)