The Shafallah Center for Children with Special Needs, under the patronage of

H H Sheikha Mozah bint Nasser Al Missned, has made a ground-breaking scientific discovery, carving a niche for Qatar in the world of genetics.

The Shafallah Medical Genetics Center (SMGC) has identified the gene responsible for the genetic disorder autosomal recessive isolated ecotpia lentis.

Ectopia lentis is a genetic eye disease that leads to visual impairment. It is defined as displacement or malposition of the crystalline lens of the eye from its normal location. This is caused due to the severing of the suspensory mechanism of the eye lens.

A research team based at the SMGC conducted a year long research and was presented at two international conferences, and published in the American Journal of Human Genetics. SMGC has state-of-the-art facilities and is based at the Shafallah Center with a sizable team of researchers.

“This is a world class achievement for the Shafallah Medical Genetics Center,” said Hassan Ali bin Ali, Chairman of the Shafallah Center for Children with Special Needs. “Although rare, Ectopia lentis is a significant eye disease and this discovery opens venues for better understanding of this disorder; we are so proud that this discovery happened here.”

With the publication of the result, SMGC has become the site for genetic testing center for this gene and disorder, which promotes its position as a comprehensive genetic center of excellence regarding childhood genetic diseases.

Ectopia lentis is a rare condition. Incidence in the general population is unknown. Patients with ectopia lentis commonly present with a marked loss in visual activity in addition to a number of possibly accompanying ocular complications including cataract, myopia, and retinal detachment.

The disease is often linked to many systemic disorders Marfan syndrome, Homocystinuria, Weill-Marchesani syndrome, Sulfite oxidase deficiency and Hyperlysinemia. Lens dislocation occurs in about 75 percent of patients with Marfan syndrome and in 90 percent cases of Homocystinuria.

“The maximum chance of inheritance of the disease is 25 percent even in consanguineous cases. Surgery can help to correct the vision to an extent. Early diagnosis can help in better results from surgery,” Hatem El Santi, Director of SMGC told The Peninsula.

The research concludes that mutations in ADAM TSL 4 gene are responsible for autosomal recessive simple ectopia lentis. This could mean that the gene plays an important role in the development of the zonular fibers which hold the lens in place. With the collaboration of Qatar University, the center will conduct more researches in to the gene.

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