This is an exceedingly rare disorder that has so far only been reported in 5 boys and a father. The name is derived from the clinical abnormalities that are present.
Children from birth have very small corneas (the clear front of the eye) and the eye is longer than average resulting in nearsightedness. The inside of the eye shows some degeneration in the retina characteristic of that seen in nearsightedness. However, vision is reasonably good and there is no evidence of deterioration. The inner corners of the eye are unusually far apart (telecanthus).
The ears are rotated posteriorly.
Nothing is known regarding the genetic cause of this condition. All children were born into families where the parents were known or suspected of being related suggesting an autosomal recessive pattern of inheritance.
The diagnosis would be made by an ophthalmologist following a complete eye examination. The prognosis for life is excellent although all reported patients were 10 or less years of age. It would seem prudent to have periodic eye examinations throughout life as nearsightedness carries a risk for retinal degeneration and detachment.