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OD
	OS

A four-month-old male infant was seen with evidence of very poor vision in both eyes.  The infant reacted to light only.  Birth weight was 3020 g (nearly 7 lbs) and the pregnancy and delivery were unremarkable.  The child is otherwise healthy and the external eyes are normal in appearance.  There is no family history of serious eye disease apparent from birth.

1.	The appearance of the patient’s retina has the following features:
	e -- all of the above The retinas shown demonstrate all of these features.
2.	After examining the infant, which of the following would you do first:
	a -- examine the retina of the parents You should examine the retina of the parents. If you see straightening of the retinal vessels, periphereal non-perfusion, and evidence of retinal detachment you can consider a recessive retinopathy.  If they are normal, the condition has occurred primarily in the child.
3.	Given the fact that the birth weight was normal, the parents' retinas appear normal, the patient is affected bilaterally, and no other abnormalities nor evidence of inflammation exists, the diagnosis would be:
	d -- familial exudative vitreoretinopathy After going through the differential diagnosis of ROP and Coats' disease and ruling them out because of the normal birth weight (ROP) and the lack of  yellow exudates and retinal telangectasia (Coats') and lack of yellowish retinal detachment (Norrie disease), you can now consider a diagnosis of autosomal dominant familial exudative vitreoretinopathy (FEVR) caused by mutation of the FEVR1 locus on chromosome 11. In selected cases, the condition can be treated by cryopexy, photocoagulation, retinal detachment surgery, and vitrectomy, but in many cases, treatment is not successful.  In the case presented here treatment would not be likely to be successful.  Some patients affected with FEVR can maintain low levels of useful vision in spite of serious retinal changes.

Reference:

Pediatric Ophthalmology and Strabismus, 2006-2007, The Basic and Clinical Science Course, American Academy of Ophthalmology, 655 Beach Street, San Francisco, Ca 94120-7242, pages 341-2.