New genetic cause for vision impairment and blindness discovered

Publication

Suzanne de Bruijn et al, Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa, The American Journal of Human Genetics, 2020

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For more than thirty years, geneticists at Radboud UMC and the Donders Institute searched for the cause of vision impairment within a large Dutch family. When that cause was identified, 21 other families with the same 'RP17' gene abnormality were located worldwide. In total, there are more than 300 people who are visually impaired or blind. The study was published in the American Journal of Human Genetics.


After thirty years of research, the genetic defect that causes the eye disease retinitis pigmentosa type 17 (RP17) has finally been discovered. Molecular geneticists Susanne Roosing and Suzanne de Bruijn located the gene defect by examining the genetic material (DNA) of a large Dutch family that had been forwarded by physicians from the Department of Ophthalmology.


Chromosome 17 abnormality

RP17 is a form of a dominant hereditary retinal disorder (retinitis pigmentosa), which causes a gradual deterioration of vision and can lead to severe forms of vision impairment and blindness. The name RP17 derives from previous indications that the defect would be located on chromosome 17.


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