by Queen Mary, University of London

Acute angle closure glaucoma of the right eye (intraocular pressure
was 42 in the right eye). Credit: James Heilman, MD/Wikipedia

New research has identified a genetic mutation linked to a type of
glaucoma, known as primary angle-closure glaucoma (PACG), which could
open up new avenues for the early detection and treatment of the
disease.

In the study, published in PLOS Genetics, researchers from Queen Mary
University of London, the UCL Institute of Ophthalmology and
Moorfields Eye Hospital studied the genetics of a Caucasian family
with a strong family history of PACG to identify potential
disease-causing genes.

The research team found mutations in the gene Spermatogenesis
Associated Protein 13, or SPATA13, caused PACG in the seven generation
family. They were also able to identify other mutations in the SPATA13
gene linked to PACG in another family and individuals with the
disease.

Further investigation found that the SPATA13 gene was also highly
expressed in the parts of the eye affected by the disease, confirming
the results of the genetic studies.

Glaucoma is the most common cause of irreversible blindness worldwide,
affecting nearly 80 million people. PACG accounts for around 50% of
glaucoma blindness worldwide, however until now the precise genetic
mutations that cause the disease were unknown.

The study provides the first evidence that SPATA13 gene is one of the
main genes involved in eye disease, and the results will help
researchers to identify other genes implicated in the development of
PACG.

Dr. Ahmad Waseem, Professor of Molecular and Cellular Oral Biology at
Queen Mary, said: “Primary angle closure glaucoma is a rarer form of
glaucoma, which can be asymptomatic but causes sudden blindness
resulting in huge burden on health services and national economy. This
ground-breaking study identifies the first genetic cause of the
disease, which will lead researchers to develop novel screening and
treatment methods and also help to reveal other genes involved in this
disease pathway.”

Professor Paul Foster, Professor of Ophthalmic Epidemiology and
Glaucoma Studies at the UCL Institute of Ophthalmology, said: “This is
the first time that we have been able to track the transmission of
this important cause of blindness through a family, and identify an
underlying biological mechanism. This will help us identify those
people at risk with greater certainty than ever before. By
understanding the cellular mechanisms at work in this disease, it may
help us develop new, more effective treatments.”