Dekaban-Arima syndrome

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Dekaban-Arima syndrome (DAS), also known as chorioretinal coloboma with cerebellar vermis aplasia, is a rare medical condition, often recognized at birth, that primarily affects the eyes and brain. Eye problems associated with this disorder include coloboma, or small holes in the retina and in the tissue between the retina and the lens of the eye. Brain abnormalities include the underdevelopment or absence of the cerebellar vermis, a part of the brain. The cerebellar vermis, which lies between the right and left halves of the brain, is responsible for balance and coordination. Other symptoms may include cysts in the kidneys and the development of fibrous tissue in the liver.
Many researchers believe that DAS is related to a condition called Joubert syndrome, which is also characterized by underdevelopment or absence of the cerebellar vermis. Some researchers believe that people with Joubert syndrome can be divided into two groups: those with retinal problems (DAS) and those without.
DAS is inherited, or passed down from parents to children, as an autosomal recessive trait. This means that two copies of the defective gene must be inherited for the disease to appear. The exact genetic mutation or defect that causes this condition is unknown.
DAS is extremely rare, but its exact prevalence is not known. While there is little information regarding the lifespan of people with DAS, the scientific literature does suggest that many individuals with DAS die from complications associated with kidney disease, such as kidney failure.
There is no cure for DAS. Treatment aims to reduce symptoms and prevent complications. Treatments may include speech-language therapy, physical therapy, occupational therapy, behavioral therapy, and visual aids. Severe kidney disease may be treated by dialysis and ultimately transplantation.

Related Terms

Arima syndrome, cerebello-oculo-hepato-renal syndrome, cerebro-oculo-hepato-renal syndrome, chorioretinal coloboma with cerebellar vermis aplasia, coloboma chorioretinal with cerebellar vermis aplasia, DAS, Dekaban Arima syndrome, Joubert syndrome with bilateral chorioretinal coloboma, Joubert-related cerebello-oculo-renal syndrome.