SNP Shot: Genomic Insights

Coats plus syndrome is a genetic disorder distinguished by Coats disease, an eye condition, along with irregularities affecting the brain, bones, digestive system, and other areas of the body.

Coats disease impacts the retina, the light-sensitive tissue lining the back of the eye. It causes retinal blood vessels to become abnormally enlarged and twisted. These abnormal vessels leak fluid, potentially leading to retinal detachment, where the retinal layers separate. These eye problems can lead to vision impairment or loss.

Individuals with Coats plus syndrome also experience brain abnormalities like calcium deposits (calcification), fluid-filled cysts, and loss of white matter (leukodystrophy). These brain issues progress over time, resulting in slowed growth, movement problems, seizures, and cognitive decline.

Additional characteristics of Coats plus syndrome involve reduced bone density (osteopenia), making bones brittle and prone to fractures, and a deficiency of red blood cells (anemia), potentially causing pale skin (pallor) and severe fatigue. Affected individuals may also develop serious or life-threatening complications such as gastrointestinal bleeding, high blood pressure in the portal vein (portal hypertension), and liver failure. Less frequently, Coats plus syndrome may manifest as sparse, prematurely gray hair, nail malformations, and skin pigmentation abnormalities like café-au-lait spots.

Coats plus syndrome and leukoencephalopathy with calcifications and cysts (LCC, also known as Labrune syndrome) were once categorized together as cerebroretinal microangiopathy with calcifications and cysts (CRMCC) due to similar brain abnormalities. However, recent research has identified distinct genetic causes for Coats plus syndrome and LCC, leading to their current classification as separate disorders rather than variations of a single condition.

Inheritance:

This condition follows an autosomal recessive inheritance pattern. This means that for a person to be affected, they must inherit a mutated copy of the responsible gene from each parent. While the parents each carry one copy of the mutated gene, they usually do not exhibit any symptoms of the condition themselves.