American Academy of Ophthalmology Web Site: www.aao.org
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March 2005

 
Blink
Robert Prusak, CRA
Kellogg Eye Center
University of Michigan
Ann Arbor

 
 

The answer to this month’s mystery image:
Familial Exudative Vitreoretinopathy

A 13-year-old male presented for a second opinion concerning his poor visual acuity in the right eye. Visual acuity was 20/300 in his right eye, 20/20 in his left. Family history included a maternal grandmother with diabetes, but no ocular complaints from parents or siblings. Lab results showed normal serum glucose and no Toxocara canis. The working diagnosis became familial exudative vitreoretinopathy. However, the patient was lost to follow-up.

FEVR is a rare genetic disease affecting the retina and the vitreous, which usually stops progressing by age 20. The disease varies in intensity. Three studies have shown that 85 percent of affected individuals can be asymptomatic. In its recessive form, FEVR can be misdiagnosed as certain nongenetic eye diseases, such as persistent fetal vascular syndrome.In its dominant form, it may resemble retinopathy of prematurity. Many FEVR patients are born with retinal folds in one or both eyes, which cause blindness in that area. As FEVR progresses, bleeding may occur from extraneous blood vessel growth (possible compensation for the lack of full growth in the outer retina), and dragging of the retina may cause tractional detachment.

 

The photograph is a composite of a dozen fundus images.

 


 

Blink is edited by Richard E. Hackel, MA, CRA, FOPS