It all started when a 2-year-old girl of Bukharan origin was sent to Dr. Eyal Reinstein for a genetic consultation.
She had already seen numerous eye doctors, the Israeli newspaper Haaretz reports. One of them sent her to Reinstein, a genetic specialist, because he suspected the problem might be genetic.
The tests found the child had a mutation in a gene named ADAMTSL4, which affects the development and structure of the eye. It leads to a disease called ectopia lentis, which causes the dislocation or misalignment of the lens in the eye and can damage vision.
Reinstein asked the ophthalmologist who referred the girl if he knew of similar cases among other Bukharan children. Yes, he said: he had seen at least 30 such cases over the years.
Reinstein tested five more children, and all had the mutation. Further testing of Bukharan Jews revealed that the mutation occurs in one out of 48 people in the community.
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