GUWAHATI, Nov 21 - Until February 2018, nobody knew about this unfortunate family from Rupohihat in Nagaon, where one joint family of four generations has had 18 visually impaired members.
The family members earned their livelihood only by begging.
However, a group of doctors took initiative to study their condition and it emerged that they were the world�s largest blind family carrying an order of hereditary nature which can be only corrected by selective birth.
�We clinically studied the problem with opthalmogists, neurologists, gynaecologists and radiologists, and found that the affected members don�t have a fully developed eyeball in the socket or underdevelopment of the structure � a condition called anopthalmos and micropthalmos. They are having isolated ocular problem without any other neurological or other physical deficit,� said Dr Gayatri Gogoi, principal coordinator of the project.
For diagnosis, three of the members � Abdul Wahid, Khairul Islam and Somala Khatoon � were genetically tested. All their samples tested positive for the same pathogenic variant autosomal dominant type, which means they have the same genetic mutation which is responsible for the blindness in the last four generations.
This family, according to Dr Gogoi, is the fourth in the world having this rarest mutation of GJA8 which was discovered incidentally, while three others were discovered by the University of Sydney Genetic Laboratory.
�Now the outcome of identification of the hereditary disorder is that every pregnancy should be tested for presence of the same defect in genes, and if found, then they should opt for termination of pregnancy or else continuation. The selection of an unborn member will gradually reduce the burden and after a few decades, the defect will disappear,� Dr Gogoi said.
During the recent lockdown, two pregnant women of the family were tested for the genetic disorder. One of them was found to be positive for the gene and hence the foetus was aborted.
However, the ante-natal genetic test � Chorionic villus sampling (CVS) � costs over Rs 10,000 and the family cannot afford it.
�We had a series of discussions with local officials on how to cover the expenditure of the genetic testing in every pregnancy which costs around 10,000 each. But there has been no headway yet,� Dr Gogoi rued, adding that an amount of Rs 10,000 can stop the birth of a visually impaired newborn.
Meanwhile, Health City Hospital and Sight First Eye Clinic in Guwahati are offering free medical care to the family.
Prof Dhavendra Kumar, a renowned clinical geneticist from Cardiff University, UK, was involved in the project while Indian experts Prof Seema Kapoor of Lady Harding Medical College and Dr Sameer Rostogi of AIIMS were also consulted. Dr Pankaj Deka and Dr NK Das of Health City Hospital, radiologists Dr Pratap Kakati and Dr Shyam Baruah are regularly taking care of the family free of cost and Dr Bijuli Goswami has also been taking care of them constantly. MLA Nurul Huda also has been supporting the family financially.
