ramipril and Myopia

Pierson syndrome, caused by mutations in the LAMB2 gene, was originally described as a combination of microcoria and congenital nephrotic syndrome, rapidly progressing to end-stage renal failure.. We report a minor variant of Pierson syndrome in a teenage girl with severe myopia since early infancy and proteinuria first detected at age 6. At the age of 11 she was found to carry a unique homozygous non-truncating LAMB2 mutation in exon 2: c.T240G (p.S80R). Renal biopsy revealed mild diffuse mesangial sclerosis and residual expression of laminin β2. Today at age 14, on treatment with angiotensin-converting enzyme inhibitors and angiotensin receptor blockers, she continues to have nephrotic range proteinuria, but a normal glomerular filtration rate.. LAMB2 mutations should be considered in all patients with glomerular proteinuria and abnormal ocular phenotype, irrespective of age and disease severity.

Topics: Abnormalities, Multiple; Adolescent; Angiotensin II Type 1 Receptor Blockers; Angiotensin-Converting Enzyme Inhibitors; Biopsy; Eye Abnormalities; Female; Glomerular Filtration Rate; Humans; Kidney; Laminin; Losartan; Mutation; Mutation, Missense; Myasthenic Syndromes, Congenital; Myopia; Nephrotic Syndrome; Phenotype; Proteinuria; Pupil Disorders; Ramipril; Retinal Detachment; Vision Disorders