IMPACT OF NEONATAL FAMILY SCREENING IN EARLY-ONSET MANAGEMENT OF TSPAN 12 POSITIVE FAMILIAL EXUDATIVE
Manoj P Shettigar1,2, Subhadra Jalali1,3, Komal Agarwal1
1Srimati Kannuri Santhamma Center for Vitreo Retinal Diseases, Anant Bajaj Retina Institute, Kallam Anji Reddy Campus, LV Prasad Eye Institute, Hyderabad, India.
Insights
Familial Exudative Vitreoretinopathy (FEVR) in a mother and daughter shared a TSPAN12 gene mutation. Early screening and intervention, including surgery, successfully treated the daughter's congenital retinal detachment.
Area of Science:
- Ophthalmology
- Medical Genetics
Background:
- Familial Exudative Vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascular development.
- A TSPAN12 gene mutation is a known cause of FEVR, leading to symptoms like retinal detachment.
Purpose of the Study:
- To present a case of FEVR in a mother and daughter with a shared TSPAN12 mutation.
- To highlight the successful surgical management of congenital retinal detachment in a neonate with FEVR.
Main Methods:
- Interventional case report detailing the management of a neonate with FEVR.
- Genetic testing confirmed a TSPAN12 (c.738G>A) mutation in both mother and daughter.
- Surgical intervention included bilateral lens-sparing vitrectomy with endolaser.
Main Results:
- The daughter presented with bilateral FEVR Stage 3A retinal detachment at birth.
- Postoperative recovery was successful following surgical intervention.
- Identical TSPAN12 gene mutation identified in both mother and affected daughter.
Conclusions:
- Timely screening of newborns from affected families is crucial for FEVR management.
- Early intervention, including laser photocoagulation and surgery, can prevent disease progression.
- Genetic counseling and awareness regarding antenatal monitoring and postnatal screening are vital for FEVR patients and their families.
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.
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