Prenatal ultrasound findings of X-linked congenital cataracts: case report and description of a novel variant.

ABSTRACT: Congenital cataracts, an important cause of permanent visual loss in children, are predominantly caused by hereditary factors. Genetic variants reportedly cause approximately 50% of congenital cataracts. The literature mainly describes cases of autosomal dominant inheritance diagnosed after birth, and minimal information is available concerning the prenatal diagnosis of X-linked congenital cataracts. Prenatal ultrasound is the primary method for diagnosis of congenital cataracts, whereas the diagnostic value of prenatal genetic testing remains controversial; however, such testing is reportedly essential for determination of disease etiology. Here, we describe a 33-year-old multigravida woman with a singleton pregnancy who was referred to our center at 24 weeks for routine prenatal examination; ultrasound imaging revealed bilateral cataracts in the male fetus. Genetic testing revealed a pathogenic variant in exon 11 of the OCRL inositol polyphosphate-5-phosphatase (OCRL) gene in the fetal sample, with the potential to cause the X-linked recessive genetic disease Dent disease 2 (Online Mendelian Inheritance in Man [OMIM]: 300555) or the X-linked recessive genetic disorder Lowe's syndrome (OMIM: 309000). We provide a comprehensive family history and our findings in a gross examination of the stillborn fetus. So, ultrasound imaging provides important information that can guide the diagnosis of congenital cataracts. When congenital cataracts are detected by prenatal ultrasound, a detailed family history should be obtained. We recommend genetic testing of the fetus and the family members to determine the etiology.

SUBMITTER: Zheng Y 

PROVIDER: S-EPMC9827286 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature