Prenatal diagnosis of Norrie disease based on ultrasound findings

Abstract

Norrie disease (ND; OMIM: 310600) is a rare, X-linked, recessive genetic disease caused by mutations in the NDP gene and characterized by congenital blindness due to bilateral degenerative changes in neuroretina. About half of ND patients have intellectual disability. ND first manifests by ocular features during the third trimester of pregnancy after normal scan findings of the first two trimesters of pregnancy. This article is protected by copyright. All rights reserved.

Transabdominal Fetal Ultrasound Before Early-Term Planned Delivery for Norrie Disease

“…10,11 Second, fetal ophthalmic ultrasound is critical to identify whether there are RDs in utero. 7,8 In our case, unlike in previously reported cases, 3 –5 the patient had already developed bilateral total RDs in utero. Although we had initially planned on preterm delivery, once the bilateral total RDs were noted the decision was made to postpone the delivery to early term to optimize both fetal and maternal health.…”

“…5 Here, we report a case of planned early-term delivery of a fetus with Norrie disease diagnosed based on positive NDP genetic testing on chorionic villus sampling 6 and total RDs noted on transabdominal fetal ophthalmic ultrasound. 7,8…”