This is one of several rare and ill-defined genetic conditions in which infants born with below average head size also have abnormal eye development that primarily involves the retina.
The below normal head size may be noted at birth. During childhood some patients develop nystagmus (wandering eye movements) indicating subnormal vision. Examination of the retina reveals severe disorganization with loss of normal pigmentation and blood vessels. Testing with an electroretinographic machine (ERG) may reveal severe malfunction of the rods and cones. Folds may develop in the retina and progress to a retinal detachment.
Motor skills and general development for the most part are normal. Speech delays are mild and mental function is normal or near normal. Brain imaging may reveal mild anomalies.
This can be considered an autosomal recessive condition that requires two mutations in the same gene. Each clinically normal parent contributes one and such carrier parents can expect that 35% of their children will have this disorder.
The diagnosis is usually based on a collaborative effort by pediatricians, geneticists, neurologists, and ophthalmologists. There is no specific treatment but physical therapy, special education, and low vision aids can be helpful.