Why Are Bukharan Jews at Risk of Losing Their Eyesight?

Israeli researchers discover genetic mutation causing dislocation or misalignment of the eye lens. Now they're trying to raise awareness of the problem among a relatively closed-off community.

A human eye

Dr. Eyal Reinstein arrived for an important meeting with one of the rabbis of the Bukharan-Jewish community in a Bat Yam synagogue two months ago. Reinstein – the director of the Medical Genetics Institute at Meir Medical Center, Kfar Sava – is not of Bukharan origin and isn’t becoming more religious, either.

He met with the rabbi in another attempt to gain access to this relatively closed community, as part of his personal campaign to increase awareness of a genetic eye disease that affects Bukharan Jews at a relatively high rate. Most of them remain unaware of the problem.

Reinstein says the campaign is moving ahead slowly, but now one of the community’s newspapers is about to publish an article on the disease. In addition, he hopes to meet with businessman Lev Leviev – the owner of Africa Israel Investments and one of the best-known members of the Bukharan community, originally from Uzbekistan – to discuss establishing a foundation to pay for genetic testing for those who need it.

Research headed by Reinstein led to the identification of the disease, ectopia lentis. It causes the dislocation or misalignment of the lens in the eye – in this case from birth – and can damage vision. The dislocation can be partial or complete, which determines the seriousness of the problem and its effect on sight.

Late diagnosis of the problem can lead to problems such as double vision, blurred vision and amblyopia (better known as lazy eye). These could all subsequently lead to blindness, or damage the quality of life – for example, the loss of a driver’s license. Reinstein says early diagnosis vastly increases the chances of success in treating the problem by implanting artificial lenses, which can both prevent the vision problems and even improve sight. But even after the implant, complications are possible and patients must be under medical care for the rest of their lives.

“There are parents whose children were forced to undergo a large number of surgeries and turns in the medical system because the disease was not found in time,” says Reinstein.

But it’s very hard to diagnose the disease via regular optical means in the first few months of life, and sometimes even during the infant’s first few years. So Reinstein is trying to raise awareness of the issue.

It all started when a 2-year-old girl of Bukharan origin who suffered vision problems was sent to Reinstein for a genetic consultation. She had already seen numerous eye doctors, but one sent her to Reinstein because he suspected the problem might be genetic.

The tests found a mutation in a gene named ADAMTSL4, which has a very important function in the development and structure of the eye. Reinstein asked the ophthalmologist who sent the girl to him if he knew of any similar cases among other Bukharan children. The eye doctor said he had seen at least 30 such cases over the years. Five more children were tested; all had the mutation.

Further testing among healthy Bukharan Jews revealed that the mutation occurs in one out of 48 people in the community.

Jews of Bukharan origin are recommended to take the genetic test during pregnancy, or beforehand, to discover the mutation. Early detection allows a number of choices: Avoiding, or ending pregnancy at an early stage; or being prepared for the diagnosis once the child is born, along with medical care and advice from the beginning of the child’s life.

The genetic test can be done privately for about 400 shekels ($104), but Reinstein hopes the test will soon become part of the government-subsidized “basket” of medical services. Recently, a number of genetic tests for diseases affecting Moroccan Jews and Druze were added to the list.

Reinstein’s research was published in the January edition of the journal Molecular Genetics and Metabolism, and was conducted in conjunction with the genetics institute at the Rabin Medical Center, Petah Tikva.