Coats Plus Syndrome is a rare genetic disorder characterized by a combination of eye abnormalities, bone problems, and brain calcifications. It primarily affects children and can lead to a variety of serious health issues. The key features of Coats Plus Syndrome include:

Retinal Telangiectasia and Detachment: This involves abnormal blood vessels in the retina, leading to vision problems and potential blindness.

Leukoencephalopathy and Brain Calcifications: The disease can cause progressive damage to the brain's white matter and deposits of calcium in the brain, leading to neurological issues such as seizures, developmental delays, and cognitive impairment.

Bone Abnormalities: Individuals with Coats Plus Syndrome often have brittle bones, which are prone to fractures and other skeletal problems.

Gastrointestinal Issues: This can include problems such as intestinal bleeding and malabsorption.

Premature Aging and Hair Abnormalities: Symptoms can also involve premature graying of hair and other signs of early aging.

Coats Plus Syndrome is caused by mutations in the CTC1 gene, which plays a crucial role in maintaining telomeres, the protective caps at the ends of chromosomes. The disease follows an autosomal recessive inheritance pattern, meaning a child must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Due to its complexity and the variety of symptoms, Coats Plus Syndrome requires a multidisciplinary approach for management, involving specialists in ophthalmology, neurology, gastroenterology, and orthopedics. While there is currently no cure, ongoing research aims to better understand the disease and develop effective treatments to improve the quality of life for those affected.