Diagnosis: Persistent Fetal Vasculature
Sadie was only two months old when her father, Drew, first sensed something may be impacting his daughter’s vision. Sadie’s right eye had a tendency to turn inward, especially when she was sleepy. When sharing his concerns with Sadie’s mother Ashley, who is also nurse, she reassured him that babies do not have fully developed ocular-control muscles. However, Ashley also became concerned when she noticed some additional symptoms. Sadie’s right pupil showed a “milky” color, and she seemed to be abnormally sensitive to light.
Drew and Ashley expressed their concerns about Sadie’s sight at her two-month exam. Her pediatrician performed the red eye reflex test in a dimly lit room after her eyes adjusted. Her pediatrician was alarmed that Sadie’s reflex was abnormal, and he sent them immediately to a local ophthalmologist. This doctor affirmed Sadie’s abnormal reflex, but needed a pediatric ophthalmologist to provide an exact diagnosis. The pediatrician referred the family to University of Tennessee Hamilton Eye Institute in Memphis for further testing because Sadie’s symptoms indicated she could have a variety of conditions, including retinoblastoma.
At Hamilton Eye Institute they met with Dr. Natalie Kerr. Much to Drew’s and Ashley’s relief, Dr. Kerr was able to perform a B Scan Ultrasound that ruled out a retinoblastoma diagnosis. However, the ultrasound did reveal a very rare eye disease known as persistent fetal vasculature (PFV). PFV is a congenital condition where the fetal vasculature of the eye fails to regress normally. According to the ultrasound, Sadie’s retina was still attached, but she would need immediate surgery to try and save her vision.
Dr. Kerr referred Sadie to Dr. Jorge Calzada, a retinal surgeon at Charles Retina Institute in Germantown, TN. Dr. Calzada confirmed that the best course of treatment was surgery. However, since PFV is such a rare condition, he could not guarantee the outcome. In the short time between these visits, Sadie’s retina started to detach. Through the course of the next four months, Sadie underwent three different surgeries. Unfortunately, despite these efforts, she has an inoperable retinal detachment. Her vision was beyond saving.
Following surgery, the mission has been keeping Sadie comfortable and fighting to save her eye. Frequent checkups with Dr. Kerr show Sadie is doing well. A chronic abrasion in her eye is treated with antibiotic ointment multiple times a day, and her light sensitivity is somewhat controlled with drops and transition lenses. PFV puts Sadie at risk for glaucoma so the medical team monitors her closely for potential signs or symptoms.
Today, Sadie is a very happy and healthy 18-month-old. Despite her challenging journey, Sadie meets all developmental markers. At nine months old she began wearing glasses to protect her “good eye.” Ashley says the cute little pink glasses are just a part of her spunky personality. Drew and Ashley are very happy they noticed the clues leading to diagnosis. Sadie is very lucky to have such conscientious parents to protect her health!