Cataracts and Glaucoma in Children Linked to Genetic Defect

Cataracts & GlaucomaA genetic glitch may be responsible for incidents of cataracts in children.

According to a press release from Maine’s Jackson Laboratory, researchers have found that RNA granules, which are key components in the reproduction of genes, might be linked to eye development.  Problems with RNA granules can result in juvenile cataracts and glaucoma.  If there is a problem with a key gene, Tdrd7, the development of the lens of the eye will be compromised, leading to these potentially blinding conditions.

The study was conducted with mice, but scientists believe that when children are missing the essential protein created by this specific gene they will be born with cataracts.  Furthermore, the genetic mutation will mean that even after the surgical removal of cataracts, the affected children will be likely to develop glaucoma because they  “may not have adequate protection from oxidative stress in the drainage structures of the eye.”

These finding will be published in the journal Science.

Source: The Jackson Laboratory

Update: Corneal Thickness Gene

One risk factor for glaucoma is central corneal thickness.

Researchers looking at ethnic populations in Singapore have identified the genes that affect collagen growth, which in turn affects central corneal thickness.  Knowing how these specific genes work can help provide insight into the cause and progression of glaucoma.


Update: Glaucoma Gene

New research shows that genetics, and not necessarily increased eye pressure, can be responsible for the onset of glaucoma.

A study published in the journal Nature Genetics shows that open angle glaucoma is associated with the pathogenic gene PRSS56.  The study was performed by researchers in Sweden, Tunisia, and the US.  The Tunisian scientists based their research on families who suffered from glaucoma while the Americans focused on animal research.

Source: News Medical

Update: Genetic Gene Mutation

A new breakthrough in genetics research has identified the strands of DNA that can responsible for the development of open angle glaucoma.

Australian scientists publishing in Nature Genetics have found two new genetic mutations that can be linked to increased glaucoma risk.  Though the mutation of the gene myocilin is present in only 3% of those who develop the disease, people with the mutation are 3 times more likely to have glaucoma than the general population.

Study authors indicate that this discovery could lead to better screening techniques and earlier detection of the disease often known as the “silent thief” since it progresses and destroys vision without one’s knowledge. Often, when one realizes their sight has been negatively affected by glaucoma the disease is significantly advanced.

Source: ABC Science