One in a million, but this genetic disorder can cause disaster

An eight-year-old boy from Bengaluru has been recently diagnosed with Coats plus syndrome, said to be the first ever case to be reported in India. An extremely rare condition, which is genetic, the global prevalence is about one in a million and awareness is low too. The syndrome manifests itself as a combination of abnormalities in the eye, brain, blood vessels, bones and gastrointestinal tract, among other things.
The parents of such an individual each carry a copy of the abnormal gene, but they themselves do not show symptoms. Genetically speaking, the disorder is inherited in an 'autosomal recessive pattern', meaning two copies of the gene must be present for it to develop. Though the disease was first documented in 1908 by Scottish physician George Coats, who described it as an improper development of retinal vessels, the biggest research stride have been in recent years.

How does it Affect the Individual?

The disorder affects the retina (the light sensitive layer of tissue at the back of the eye). The blood vessels are abnormally dilated and leak, which may lead to retinal detachment and vision loss. Only one eye is affected in most cases.z There is calcification, or abnormal deposits of calcium, in the brain. Cysts are present and white matter is affected. All this im pacts growth, movement and intelligence.s z There may be seizures in the person.

The production of red blood cells is low, resulting in anaemia and tiredness.

The bones are fragile.

There may be bleeding in the gastrointestinal tract, which can be life-threatening.

How can the Condition be Managed?

Most of the time, each problem area has to be managed individually.

Abnormal vessels in the retina can be destroyed through different techniques such as laser coagulation and cryoablation.

Medications are prescribed for seizures.

Blood transfusion may be recommended to deal with anaemia.

Support and training are necessary for the individual and family caregivers

Can it be Prevented?

Genetic testing is the only way out. If there is prevalence of the syndrome in a family, a genetics professional may be consulted for screening of other members to know if they are carrying the problem gene.