title: Prenatal Diagnosis of a Case of Norrie Disease with Late Development of Bilateral Ocular Malformation.
abstract: We report a case of Norrie disease, diagnosed by prenatal ultrasound, confirmed by Sanger sequencing of the DNP gene from the aborted fetal cord blood and histologically. Prenatal ultrasound revealed no abnormality in either eye at 22+1and 31+4gestational weeks, but at 36+5gestational weeks both eyes had massive vitreous cavity opacities with complete retinal detachment. Norrie disease was initially suspected because of an older male sibling with the disease. To our knowledge, prenatal ultrasound diagnosis of Norrie disease has been previously described only one case in 1993 in a 34-week-old fetus. The normal eye development until after 31 + 4 gestational weeks provides insight into the first manifestation and then the rapid progression of the eye disease.
authors.affiliation: a Ultrasonic Medicine Department , First Affiliated Hospital of Sun Yat-sen University , Guangzhou , China.
authors.forename: Li Hong
authors.initials: LH
authors.lastname: Wu
authors.affiliation: b Pathology Department , Zhongshan Ophthalmic Center, Sun Yat-sen University , Guangzhou , China.
authors.forename: Li-Hong
authors.initials: LH
authors.lastname: Chen
authors.affiliation: a Ultrasonic Medicine Department , First Affiliated Hospital of Sun Yat-sen University , Guangzhou , China.
authors.forename: Hongning
authors.initials: H
authors.lastname: Xie
authors.affiliation: c The Third Affiliated Hospital of Guangzhou Medical University , Key Laboratory for Major Obstetric Diseases of Guangdong Province, Key Laboratory of Reproduction and Genetics of Guangdong Higher Education Institutes , Guangzhou , China.
authors.forename: Ying-Jun
authors.initials: YJ
authors.lastname: Xie
mesh_terms: D000328:Adult; D001766:Blindness / Q000151:congenital* / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000235:genetics; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D009422:Nervous System Diseases / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012162:Retinal Degeneration; D012163:Retinal Detachment / Q000151:congenital / Q000175:diagnosis / Q000000981:diagnostic imaging; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D018615:Ultrasonography, Doppler, Color; D016216:Ultrasonography, Prenatal
chemical_list: D005136:Eye Proteins; C081848:NDP protein, human; D009419:Nerve Tissue Proteins
keywords: Norrie disease; prenatal diagnosis; retinal detachment