This disorder was described in a single family in 2004.
This is apparently a congenital disorder as the family history indicates that poor vision and nystagmus (dancing eyes) were present from birth. There were malformations in both the front and the back part of the eyes. The iris in some patients (all were 15 or less years old) was attached to the cornea (windshield of the eye) while others had a developmental deformity in this tissue. In the back of the eye, a special portion of the retina known as the foveomacular region was underdeveloped. The vision ranged from 20/120 to 20/400. No glaucoma was detected but it is unknown if this is a progressive disorder.
The normal parents were related to each other and all 5 patients were their offspring suggesting an autosomal recessive pattern of inheritance. If this is the case, it would be expected that the next child would have the same disorder with a 25% risk.
The diagnosis in this condition would be made by an eye doctor and there was no evidence for any abnormalities in other parts of the body. No follow-up information has been reported and nothing is known about the prognosis. Visual aids likely would be helpful.