Sveinsson chorioretinal atrophy
Type of disease: Genetic, autosomal dominant | Rare conditions
Sveinsson chorioretinal atrophy, also known as Helicoid peripapillary chorioretinal degeneration, is a rare genetic disorder. It is most often found in Iceland, but a few cases have occurred elsewhere.
The main symptom of Sveinsson chorioretinal atrophy is central vision loss, which makes it difficult to see detail. In this condition, the retina does not work properly. The retina is the part of the eye that receives light and coverts it into signals for the brain. For individuals with Sveinsson chorioretinal atrophy, cells in the retina called rod cells do not grow and develop as they typically should. There is also damage to the choroid. The choroid is the part of the eye that contains blood vessels and that provides oxygen to many layers of the eye.
Sveinsson chorioretinal atrophy is present at birth. Vision loss occurs in both eyes and progresses with age. The rate of vision loss depends on the individual. Sveinsson chorioretinal atrophy is caused by a change in the TEAD1 gene. It is passed through families in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition.
Sveinsson chorioretinal atrophy is diagnosed by looking for damage to the back of the eye using a tool called a funduscope. If you or a family member has been diagnosed with Sveinsson chorioretinal atrophy, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.