Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease

Abstract

Background Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal genetic testing and ultrasound in the diagnosis and counseling of FEVR and ND. Methods Amniocentesis and ultrasonography were performed in high‐risk mothers, with children having FEVR or ND, to predict severe ocular abnormalities. Results Case 1: A homozygous NDP mutation (c.376T>C, NM_000266) was detected in the proband and his mother. Molecular prenatal analysis of the fetal DNA revealed no mutations. No ocular abnormalities were detected on ultrasonography. The pregnancy progressed uneventfully to a normal outcome. Case 2: A novel heterozygous FZD4 mutation (c.1010dupA, NM_012193) was detected in the proband and his mother. The same mutation was detected in the fetus, but ultrasonography showed no ocular abnormalities. A healthy baby boy with stage 1 FEVR was born after an uneventful pregnancy. Case 3: Deletions of exons 2 and 3 in the NDP were found in the proband and his mother. The same deletion mutation was detected in the female fetus, but the ultrasound scan was normal. The pregnancy progressed uneventfully to a normal outcome. Conclusions To our knowledge, antenatal genetic analyses were used in conjunction with ultrasound for the first time, to diagnose FEVR and ND, and predict the postnatal prognoses in at‐risk babies.

Mapping of global research output in congenital cataracts from 1903 to 2021

“…Norrie disease, caused by a mutation in the NDP gene and inherited as X-linked recessive patterns, is closely associated with congenital cataracts. [ 2 , 3 ] Another X-linked recessive disorder is Nance Horan syndrome resulted severe bilateral congenital cataracts in which males have congenital nuclear cataracts. [ 4 ] Down syndrome is a common chromosomal disorder of chromosome 21, causes mental disability and delayed growth.…”

“…There are various genetic, environmental, and metabolic factors are associated with congenital cataracts. Norrie disease, caused by a mutation in the NDP gene and inherited as X-linked recessive patterns, is closely associated with congenital cataracts [2,3] . Another X-linked recessive disorder is Nance Horan syndrome resulted severe bilateral congenital cataracts in which males have congenital nuclear cataracts [4] .…”

A Survey of Multigenic Protein-Altering Variant Frequency in Familial Exudative Vitreo-Retinopathy (FEVR) Patients by Targeted Sequencing of Seven FEVR-Linked Genes

“…FEVR (Familial Exudative Vitreo-retinopathy) and Norrie disease are inherited disorders that affect the development of the neural retinal vasculature, resulting in avascular regions in the peripheral retina [ 1 , 2 , 3 ]. FEVR was first described in 1968 and can result in blindness from retinal traction, folding, detachments, neovasuclarization, and vitreous hemorrhage [ 4 ].…”

Commentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders

“…Knowledge of the gene mutation can also facilitate the molecular prenatal analysis of fetal DNA; this along with antenatal ultrasound can be used to predict FEVR in at-risk babies. [ 11 ] Timely intervention in the early neonatal period itself can prevent total blindness in some at-risk babies.…”