A child presents to the retina clinic for exotropia. He has no relevant past birth, medical or family history, except that his maternal uncle was blind. His anterior segment exam is normal. Macular dragging with straightening of vessels is noted in the left eye. Genetic testing is initially remarkable, but sequencing of the NDP gene identifies the same mutation as his uncle. Examination of his mother and sisters reveals retinal abnormalities including peripheral retinal non-perfusion, vascular leakage, and vessel straightening. The patient is diagnosed with X-linked Familial Exudative Vitreoretinopathy (FEVR).
Presentation Date: 10/19/2023
Issue Date: 10/27/2023