Sorsby's fundus dystrophy

Sorsby's Fundus Dystrophy (SFD) is a rare, genetically inherited, degenerative disease of the eye that leads to the loss of central vision. It is characterized by the deterioration of the macula, a small area in the center of the retina responsible for sharp, detailed central vision. SFD is named after the British ophthalmologist Arnold Sorsby who first described the condition in the mid-20th century.

Causes and Genetics

Sorsby's Fundus Dystrophy is caused by mutations in the TIMP3 gene, which encodes for the tissue inhibitor of metalloproteinases-3. This protein is involved in the homeostasis of the extracellular matrix of the retina. Mutations in the TIMP3 gene lead to abnormal accumulation of extracellular material under the retina, causing the characteristic symptoms of SFD. The condition is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene, inherited from an affected parent, is sufficient to cause the disease.

Symptoms

The onset of symptoms typically occurs in adults in their 30s or 40s. Early symptoms of SFD include a slow loss of central vision, difficulties with night vision, and sometimes distorted vision (metamorphopsia). As the disease progresses, these symptoms worsen, leading to significant impairment of central vision. However, peripheral vision is usually preserved.

Diagnosis

Diagnosis of Sorsby's Fundus Dystrophy is primarily based on the clinical history, examination of the eye, and genetic testing. Fundus photography, optical coherence tomography (OCT), and fluorescein angiography are important diagnostic tools that help in visualizing the structural changes in the retina and the underlying choroidal neovascularization, a common complication associated with SFD.

Treatment

There is currently no cure for Sorsby's Fundus Dystrophy. Treatment is symptomatic and focuses on managing complications, such as choroidal neovascularization, which can be treated with anti-VEGF (vascular endothelial growth factor) injections into the eye to slow the progression of vision loss. Low vision aids and rehabilitation services can help patients adapt to their vision loss.

Prognosis

The prognosis for individuals with Sorsby's Fundus Dystrophy varies. While the disease leads to a progressive loss of central vision, the rate at which vision deteriorates can vary widely among affected individuals. Peripheral vision is typically preserved, allowing for a degree of visual independence.

Research

Research into Sorsby's Fundus Dystrophy is ongoing, with studies focusing on understanding the molecular mechanisms underlying the disease and developing potential treatments. Gene therapy and stem cell therapy are areas of interest that may offer hope for future interventions.

Sorsby's fundus dystrophy Resources
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