Cause of hereditary blindness identified

Washington: Researchers from Bochum have found that a common hereditary disease called retinitis pigmentosa is the cause of blindness in humans.

The occurrence of this hereditary disease was initially identified in Schapendoes dogs as progressive retinal degeneration - progressive retinal atrophy.

“Since at the beginning of the work, the importance of the CCDC66 protein in the organism was completely unknown, in collaboration with Thomas Rulicke (Vienna) and Professor Saleh Ibrahim (Lubeck), we developed a mouse model with a defect in the corresponding gene” explained Professor Epplen.

The aim was initially to obtain basic information about the consequences of the CCDC66 deficiency in order to draw conclusions on the physiological function of the protein.

“Fortunately, the mice showed exactly the expected defect of slow progressive impaired vision,” he said.

The findings were published in Human Molecular Genetics.


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