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  • A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterised by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, oedema, hypertension, and hyperlipidaemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
  • A rare primary glomerular disease due to homozygous mutations in LAMB2 gene, characterized by prenatal or early-onset progressive steroid-resistant nephrotic syndrome leading to renal failure, and variable ocular defects including myopia, fundus abnormalities, strabismus or nystagmus, without severe visual impairment or blindness. Patients present in early infancy with massive proteinuria, edema, hypertension, and hyperlipidemia. Psychomotor development is normal. Caused by homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p.
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