SNP Shot: Genomic Insights

Wagner syndrome is an inherited condition leading to gradual vision decline. Although eye issues causing vision loss generally start in childhood, the visual impairment may not be immediately obvious.

Individuals with Wagner syndrome experience thinning of the retina, the light-sensitive layer at the back of the eye, which can lead to retinal detachment. Abnormalities can also occur in the choroid, the retina's blood vessel network. This results in progressive degeneration of both the retina and choroid. Some affected individuals have blurry vision due to ectopic fovea, a condition where the central vision area of the retina is misplaced. Furthermore, the vitreous, the gel filling the eye, becomes more liquid and less dense. Cataracts, a clouding of the eye's lens, also develop. Additional symptoms can include nearsightedness (myopia), worsening night vision, and constricted peripheral vision.

The severity of vision loss in Wagner syndrome varies significantly, ranging from almost normal vision to complete blindness in both eyes.

Inheritance:

Wagner syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder.