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Case Reports
, 7 (1), e00503

Prenatal Diagnosis of Familial Exudative Vitreoretinopathy and Norrie Disease

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Case Reports

Prenatal Diagnosis of Familial Exudative Vitreoretinopathy and Norrie Disease

Jingjing Liu et al. Mol Genet Genomic Med.

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.

Keywords: Norrie disease; familial exudative vitreoretinopathy; genetic counseling; prenatal diagnosis.

Figures

Figure 1
Figure 1
The pedigree, chromatograms, and phenotypes of Family 1. In the pedigree (a): M represents a variant, and +, a normal allele. Y indicates the Y chromosome. In the chromatogram of the proband (b), the variation is marked with red arrows. (c) External photograph of the right eye of the proband shows dense retrolental fibrovascular tissue accompanied by hemorrhage, and the left eye shows a shallow anterior chamber with corneal opacity progressing to buphthalmia. OD and OS represent right and left eyes, respectively. (d) In the chromatogram of the mother, the red arrow indicates the positions of the altered nucleotides. (e) Fundus fluorescein angiography (FFA) image of the proband's mother shows non‐perfusion of peripheral retina and slight leakage. (f) Prenatal ultrasound of the fetus's eyes showed symmetrical ocular globes, transparent and bright lenses, and clear vitreous cavities. (G) Fundus photographs of the newborn baby show normal findings
Figure 2
Figure 2
The pedigree, chromatograms, and the phenotypes of Family 2. (a) The pedigree of Family 2. In the sequence chromatograms of the proband (b), the variation is marked with a red circle. (c) Fundus examination showed bilateral retinal folds in the proband of Family 2. (d) In the sequence chromatogram of the proband's mother, the variation is marked with a red circle. (e) Fundus fluorescein angiography (FFA) of the proband's mother shows excessive, straightening vessel branching, vascular leakage, and non‐perfusion area. (f) Prenatal sonography of the fetus's eyes showed symmetrical ocular globes, transparent and bright lenses, and clear vitreous cavities. (g) FFA of the newborn baby shows straightening vessel branching and peripheral avascular zone in both eyes
Figure 3
Figure 3
The pedigree and the phenotypes of Family 3 (a). (b) The deletion of two exons was showed (c) Fundus examination shows the partially reattached retina in the left eye of the proband after vitrectomy and lensectomy. (d) Prenatal sonography of the fetus's eyes showed symmetrical ocular globes, transparent and bright lenses, and clear vitreous cavities. (e) Fundus photographs of the newborn baby show normal findings

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