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New Genetic Mutation Behind Childhood Glaucoma Identified

Genetic Mutation Behind Childhood Glaucoma
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An international team led by Harvard Medical School scientists at Mass Eye and Ear and Boston Children’s Hospital has discovered a new genetic mutation that may be a root cause of severe cases of childhood glaucoma, a devastating condition that runs in families and can rob children of their vision by 3 years of age.

Through advanced genome-sequencing technology, the researchers found a mutation in the thrombospondin-1 (THBS1) gene in three ethnically and geographically diverse families with childhood glaucoma histories. The researchers then confirmed their findings in a mouse model that possessed the genetic mutation and went on to develop symptoms of glaucoma driven by a previously unknown disease mechanism.

Genetic Mutation Behind Childhood Glaucoma :Leading cause of childhood blindness

Childhood, or congenital, glaucoma is a rare but serious disease that presents in children as early as birth and as late as 3 years of age. Despite its rarity, childhood glaucoma is responsible for 5 percent of cases of child blindness worldwide.

Glaucoma causes irreversible damage to the eye’s optic nerve, often due to a buildup of pressure inside the eye, called intraocular pressure, or IOP. In adults, this damage can occur over time without symptoms.

Children and babies with childhood glaucoma, however, can be born with severe disease and vision loss or lose their vision later in childhood due to elevated IOP. This increase in pressure not only damages the optic nerve but can affect other structures in a child’s eye, like the cornea. Children with childhood glaucoma typically require surgeries as early as the first three to six months of life, followed by several more operations throughout their childhood.

Uncovering the genetic underpinnings

For decades, researchers have turned toward genetics to better understand the cause of glaucoma. When Wiggs first began this line of research 30 years ago, scientists were able to identify only regions of the genome affected in glaucoma. Thanks to advances in genomic technology, researchers gained the ability to review the complete genetic makeup of individuals with and without glaucoma to determine which specific genetic mutations play a role in the disease. Research led by Wiggs in 2021 used a dataset of more than 34,000 adults with glaucoma to identify 127 genes associated with the condition.

Care to prevent Childhood Glaucoma

Therapeutically, knowledge of this gene mutation can lead to earlier treatments with conventional therapies. For example, if a baby is born with this mutation, their eye care specialist can better inform the parents of the risks and develop an appropriate disease-monitoring and treatment plan.

Identifying this new mechanism and gene at the root of childhood glaucoma could also lead to new therapies that would target the accumulation of abnormal proteins. The researchers also aim to determine whether other THBS1mutations are involved in adult-onset disease, like primary open-angle glaucoma, or milder forms of the disease.

This study was funded by the March of Dimes; National Institutes of Health (grants R01EY031820 and P30EY014104); Ophthalmic Research Institute of Australia; Channel 7 Children’s Research Foundation; Department of Innovation, Industry, Science and Research (Australia); National Health and Medical Research Council of Australia; and Boston Children’s Mouse Gene Manipulation Core (funded by NIH/NICHD U54 HD090255 and NIH R01 NS38253).

Adapted from a Mass Eye and Ear news release.

The researchers will also continue to look for new genes associated with childhood glaucoma in the hopes of one day developing very comprehensive screening.

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