This disorder was first described in a Swedish family in 1951. It is an inherited condition that affects the cornea (windshield of the eye), and the lens.
The cataract in this disorder involves an opacity of the very front of the lens, usually in the shape of a dot or plaque. It may be evident at birth but is usually not diagnosed until later in childhood. There is some progression after it first forms but after puberty it often is stationary. Vision varies depending upon the size and density of the opacity.
The other tissue involved is the cornea but its impact on vision is later in life. Little bumps appear on the posterior surface of the cornea in a layer called the endothelium. This layer is vital in maintaining the clarity of the windshield (cornea) and these little bumps, called guttata, are the first sign that it is abnormal. With time, the endothelium is unable to keep excess fluid out of the cornea and the result is called edema, or swelling. The loss of clarity leads to blurry vision like looking through a foggy windshield, which eventually leads to serious interference with activities of daily living.
This is an autosomal dominant disorder caused by a gene mutation that has yet to be characterized. The family pattern is vertical as the mutation is passed from parent to child.
There is a wide range of vision in this disorder. Obviously, since it is a progressive disorder, vision is better in young people and it becomes worse with age. Cataracts can be removed restoring clarity. Likewise, a corneal transplant may be needed and, again, the prognosis is usually good. It is important to note, though, that most patients function with good vision without needing such surgical intervention. Your ophthalmologist can advise you regarding treatment.