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Recent Study Uncovers Genetic Mutation in Childhood Glaucoma

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Glaucoma is a progressive eye disease that can permanently damage the optic nerve, resulting in life-long vision loss. In the vast majority of cases, glaucoma results from abnormally high eye pressure caused by the buildup of excess fluid in the eye.

In December 2022, scientists discovered a new genetic mutation that may be responsible for severe juvenile glaucoma, which can lead to blindness in children as young as 3.

To learn more about childhood glaucoma or to book a consultation for a loved one, contact Dr. James Bedsole Eye Care in Pell City.

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The Genetic Causes of Glaucoma

Researchers at Mass Eye and Ear, a member of Mass General Brigham and Boston Children’s Hospital, discovered a new genetic mutation in the thrombospondin-1 (THBS1) gene by screening 3 families with histories of childhood glaucoma. The families were ethnically diverse and from different geographical locations around the world.

The work was done using advanced genome-sequencing technology.

What Is Juvenile Glaucoma?

Although rare, childhood or juvenile glaucoma causes 5% of global child blindness cases.

Children with glaucoma can be born blind or lose their vision during childhood. It is typically passed down genetically, often with multiple family members being affected. Patients are prescribed medication and sometimes surgery in an effort to alleviate the pressure in the eye and prevent vision loss.

Symptoms of Juvenile Glaucoma

Common symptoms of juvenile glaucoma include sensitivity to light, a cloudy and enlarged cornea, vision loss, one eye being bigger than the other, excessive tearing, and vision loss. If your child is experiencing any of these symptoms, it’s important to take them to an eye doctor near you to screen for glaucoma.

Juvenile Glaucoma Diagnostics

Tests for juvenile glaucoma include tonometry and pupil dilation, as well an evaluation of visual acuity and the visual field.

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Glaucoma Diagnosis & Management at Dr. James Bedsole Eye Care in Pell City

Our eye care center in Pell City offers a full range of eye health services to clients of all ages, from children to older adults. The earlier glaucoma and other eye conditions are detected, the sooner treatment can begin, and the better the outcomes.

To schedule a comprehensive eye exam or to learn more about this condition, contact in Pell City at Dr. James Bedsole Eye Care.