This oddly-named disorder has primary manifestations in bone and the eye.
Infants have a growing mass of abnormal tissue in the eye which often causes hemorrhages that lead to retinal detachments. Blindness is often the result as early as infancy or before adulthood. The retina never develops normally. Cataracts and glaucoma may also occur. A few individuals have been described as having mental delays but others have normal intelligence. There may be some muscle weakness and infants are sometimes described as floppy.
Bones also do not form normally and are fragile due to lack of density. Fractures are common. Scoliosis, deformed limbs, and short stature may result. On X-ray, they appear delicate and osteoporotic.
The gene mutation responsible seems to cause disease in the presence of both a single or double mutation. This disorder therefore can be inherited both in an autosomal dominant and an autosomal recessive pattern but it generally appears in a horizontal pattern suggestive of autosomal recessive inheritance.
This condition requires ophthalmologic, pediatric, and orthopedic collaboration for diagnosis. Orthopedic repair is indicated for fractures and scoliosis. Some improvement in bone density may follow bisphosphonate drug treatment if begun early. There is no treatment that prevents blindness.