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

Retinal cases & brief reports - 1 Jul 2026

Shettigar Manoj P, Jalali Subhadra, Agarwal Komal, Belenje Akash

Abstract excerpt

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...

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PMID: 40249952
DOI: 10.1097/ICB.0000000000001764

Genes

IMPACT
TSPAN12

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