COATS PLUS SYNDROME

-  It is a kind of rare genetic disorder, estimated prevalence of 1 in 10,00,000 people across the globe. 
- An inherited condition characterised by an eye disorder called Coats disease plus abnormalities of the Brain,Bones, Gastrointestinal System and other parts of the body. 






- This disease affects the retina, which is the tissue at the black of the eye that detects light and color.
- The disorder causes blood vessels in the retina to be abnormally enlarged and twisted. The abnormal vessel leak fluid, which can eventually cause the layers of the retina to separate. Leads to this abnormalities result vision loss.  

- This  also affects brain, like abnormal growth of Calcium the development of fluid - filled pockets called Cysts & Loss of a type of Brain tissue known as white matter. Behalf on this Patient suffer slow growth, moment disorders, seizures and a decline in intellectual function.

- Apart from this Patient suffers low bone density called Osteopenia, which causes bones to be fragile and break easily & shortage of RBC. Which can lead to unusually Pale skin & fatigue. 

- As per sources Hindustan Times, The first Indian case of this rare disorder has been identified in Bangalore by a team of researchers. Team consisted of Scientists from NIMHANS and IISc in Bangalore, and CSIR-Institute of Genomics and Integrative Biology in New Delhi. The Study published in the journal BMC Medical Genetics is the first to identify Coats Plus Syndrome in India. 

- Scientist Dr. Mohammed Faruq, One of them Study team on this Project said "The results will be useful for genetic diagnosis and carrier detection in families and other patients with similar disease manifestations."

- These findings add to the knowledge of the novel mutation in CTC1 as we have described and can be included in the mutation diagnostic panel.

-  The Scientist identified an eight year old boy who showed signs of having this rare disease, along with an unusual occurrence of Dextrocardia, Where the Heart is positioned on the right side of the body  instead of the  left.



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