Cause of Hereditary Blindness Potentially Discovered

Protein linked to visual defect causes hereditary blindness

June 27, 2011 / Author:  / Reviewed by: Joseph V. Madia, MD

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(dailyRx News) Hereditary blindness, long a mystery in how or why it occurred, appears to be the result of a gene mutation. Scientists are now gaining a better understanding of the genetic disorder.

Retinitis pigmentosa is the most common hereditary disease which causes blindness in humans.  It is characterized as eye disease in which there is damage to the retina because of a gene defect. The retina is the layer of tissue at the back of the inner eye that converts light images to nerve signals and sends them to the brain.

"Find out whether your family has a history of inherited blindness."

Ruhr-University Bochum researchers believe they have identified the importance of CCDC66 protein and how its deficiency, or gene mutation, can cause visual defects, most notably retinitis pigmentosa.

The researchers developed a mouse model with a defect in the corresponding gene to obtain information about CCDC66 deficiency to draw conclusions about the physiology of the protein.

As expected, the mice showed the expected defect of slow progressive impaired vision. Because the progression of the disease happened in months, not years, in the mice, researchers were able to study the entire development process.

Using those findings, researchers developed a genetic test for diagnosis in Schapendoes dogs that could be used predictively in breeding. Schapendoes dogs are originally a Dutch breed of herding dog.

The research results could also potentially be significant for people. The scientists are currently investigating whether mutations of the CCDC66 gene could also be responsible for retinitis pigmentosa in humans.

Insights gained from the study will be used to further understand the disorder. The study was published in Human Molecular Genetics.