In utero detection of fetal cataracts

Lowe's syndrome or oculo-cerebrol-renal syndrome is an X·linked recessive disorder characterized by congenital cataracts, physical and mental retardation, and renal tubular dysfunction. 1 As first described by Lowe and colleagues,2 the core symptoms are moderate to severe mental retardation (100%), growth failure (100%), and congenital cataracts (100%). Clin· ical features include areflexia, hypotonia, glaucoma, noninflammatory joint swelling, and contractures. Developmental delay is progressive, although renal tubular dysfunction is usually seen in the first year of life. There are, however, no structural central nervous system or renal malformations at birth.J All chiJdren with Lowe's syndrome are born with cataracts. 4 The gene has been mapped to the long arm of the X chromosome (Xq25).s This case report describes the diagnosis of in utero cataracts associated with Lowe syndrome. Sonography is a major tool for the detection of structural fetal anomalies and has been used in the extrauterine diagnosis of eye disorders since the 1950s, yet reports of ocular abnormalities recognized in utero are rare. Although the in utero diagnosis of congenital cataracts has been reported,6 prenatal recognition of cataracts in Lowe's syndrome has not yet been made previously.