Coats plus syndrome

Coats plus syndrome is a multisystem disorder that affects several parts of the body. People with this condition may have problems with the eyes, brain, bones, and blood formation. The condition is known for causing abnormal blood vessel growth in the retina, which can lead to leakage of fluid (exudates) and other changes in the eye. It is also marked by changes in the brain, including areas of calcification (hard deposits), white matter changes (leukoencephalopathy), and cysts. In addition to its effects on the eyes and brain, Coats plus syndrome can also lead to weaker bones (osteopenia) that may be prone to fractures, suppression of the bone marrow that reduces blood cell production, and even gastrointestinal issues such as bleeding and increased pressure in the portal vein (portal hypertension). This condition is inherited in an autosomal recessive manner, meaning that a person must receive a copy of the altered gene from each parent to develop the syndrome.

Common symptoms of Coats plus syndrome include eye problems such as retinal telangiectasia and exudates, which can affect vision. Neurologically, there may be calcifications in the brain, changes in white matter, and cysts that can affect brain function. Additionally, there is a predisposition to bone fractures due to decreased bone density, as well as issues related to bone marrow suppression and gastrointestinal bleeding along with portal hypertension.

Coats plus syndrome is caused by a genetic change passed down in an autosomal recessive pattern. This means that two copies of the altered gene, one from each parent, are needed for the condition to develop. The disorder affects many systems in the body, leading to the range of symptoms that are seen in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.