Table 1

Clinical features and mutations in 14 patients with Lowe’s syndrome

CaseAge at diagnosisLens formRBP and NAG measuredPresence of maternal lens opacitiesGeneral featuresGenetics
ND, not done.
170 mthLamellarNDYesDysmorphic facies, seizures, developmental delayND
246 mthDense opacityYesYesHypotonia, severe growth retardation, developmental delayND
3BirthDense opacityYesYesHypotonia, rickets, arthrogryposis, developmental delayNonsense mutation in exon 11 (OCRL shift)
45 mthIntralenticular haemorrhageNDNoHypotoniaND
531 mthDense posterior central opacityNDNoHypotoniaND
61 mthDense opacityNDYesHypotonia, developmental delayND
728 mthCentral posterior plaqueYesNoSevere growth retardation, hypotoniaFrameshift mutation in exon18
83 mthCentral posterior capsule defectNDYesHypotoniaMissense mutation in OCRL-1 at codon 245
941 mthDense opacityYesNoDysmorphic facies, developmental delay, hepatosplenomegalyGln215stop (nt820CαT)
104 mthDense opacityYesNoHypotonia, ricketsDeletion of 4′UTR of the OCRL-1 gene
1127 monthDense opacityYesNoHypotonia, nephrocalcinosis, developmental delayShift in exon 16 amplimer of OCRL
12BirthSmall lens, dense posterior opacityNDYesHypotonia, distal hypospadiasND
133 mthPlaque in fetal nucleusYesNoVery floppy, dysmorphic faciesShift in amplimer for exon 21 of OCRL
142 mthDense opacityYesYesHypotoniaND