IMPACT OF NEONATAL FAMILY SCREENING IN EARLY-ONSET MANAGEMENT OF TSPAN 12 POSITIVE FAMILIAL EXUDATIVE VITREORETINOPATHY: A CASE REPORT.

PURPOSE: To report a case of familial exudative vitreoretinopathy (FEVR) where both the mother and the daughter had the same genetic mutation in TSPAN 12, and the daughter had treatable retinal detachment at birth.

METHODS

This is an interventional case report.

RESULTS

A 28-year-old primi gravida, a known case of FEVR presented to our OPD in the first trimester. Targeted imaging for fetal anomalies scan ruled out any anomalies. A planned near-term, but early elective delivery was done at the 36th week of gestational age, and the child was brought for early neonatal screening for FEVR at age 10 days. The birth weight was 3.6 kg. Fundus evaluation showed bilateral disc and arcade drag due to a highly vascular temporal peripheral tractional retinal detachment. Diagnosis of bilateral FEVR Stage 3A retinal detachment was made. A bilateral lens-sparing vitrectomy with endolaser was performed to mitigate the traction onto the retina. The child did well postoperatively. Genetic testing of the mother and the child showed the same TSPAN12 (c.738G>A) gene mutation.

CONCLUSION

Surgical success in FEVR can hinge on the timely screening of the new family member. Progression of FEVR to more advanced stages may be prevented with laser photocoagulation and prompt surgery whenever indicated. It is imperative to educate FEVR patients about the risk to the next generation and the importance of good antenatal monitoring, early delivery, and immediate postnatal ophthalmic fundoscopic examination of newborns.