Bothnia retinal dystrophy

Bothnia retinal dystrophy is a rare inherited eye disease that mostly affects people in Northern Sweden. It usually shows up in early childhood and begins with difficulty seeing in low light (night blindness). Over time, the condition leads to changes in the macula, the central part of the retina, causing a decrease in visual clarity. As the disease progresses, people may experience a gradual loss of vision, eventually leading to blindness by adulthood. In addition to the decline in central vision, examination of the eye often reveals changes in the retinal tissue such as retinitis punctata albescens in the back part of the eye (posterior pole) and abnormal appearance of the retinal fields. These findings help specialists recognize the condition and distinguish it from other forms of retinal dystrophies.

People with this condition commonly experience night blindness starting in early childhood. They may also notice that their central vision slowly fades as the disease progresses, and specialized eye exams might show unique spots on the retina. Affected visual fields are also a common sign, which means that the overall view may gradually become limited.

Bothnia retinal dystrophy is caused by changes in the genes that affect the retina. The condition has been linked to the RLBP1 gene, which plays a role in normal retinal function. As it is an inherited disorder, the changes in this gene are passed down through families, leading to the development of the disease.

Information about treatment is currently limited for this condition.

The progression of Bothnia retinal dystrophy is gradual. Initially, people may experience night blindness and reduced central vision, but as the disease advances, the vision continues to deteriorate. Ultimately, blindness in adulthood is common. However, the pace of progression can vary between individuals.

Research on Bothnia retinal dystrophy is ongoing. Studies continue to explore the genetic causes and the detailed changes in the retina, which may lead to better understanding of the disease mechanisms. Future research may offer improved options to manage or slow the progression of vision loss.