This condition has been reported in only one family and little is known about it.
An enlarged spleen and swelling of the optic nerve (that connects the eye to the brain) are the earliest signs and may be present in very young children. Vision is reduced by the second decade of life and progressively worsens. The retina may have some pigment changes as well. Eventually the optic nerve is severely damaged and nearly all vision is lost.
The enlarged spleen often leads to abdominal pain and the organ may have to be removed. Patients often complain of abnormal sweating and intermittent skin rashes. Recurrent migraine headaches are common. The number of cells in the blood stream is reduced but there does not seem to be an increased susceptibility to infections.
Based on the report of single family consisting of a mother and two daughters with this condition, autosomal dominant inheritance seems the most likely. An affected parent thus would have a 50% chance of passing the disease to each child. Nothing is known about a genetic defect.
Ophthalmologists and pediatrician are the most likely to make the diagnosis. However, there is no diagnostic test that would help. The prognosis for vision is poor. Nothing is known regarding longevity and there is no known treatment. Low vision aids can be helpful in early vision loss.