Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis

This study examined FSGS-associated genes from the Genomics England Renal proteinuria panel  for reported and likely ocular features. Thirty-two of the 55 genes (58%) were associated with ocular abnormalities in human disease, and a further 12 (22%) were expressed in the retina or had an eye phenotype in mouse models. The commonest genes affected in congenital nephrotic syndrome (NPHS1,NPHS2,WT1,LAMB2,PAX2 but notPLCE1) may have  ocular manifestations . Many genes affected in childhood–adolescent onset FSGS (NPHS1,NPHS2,WT1,LAMB2,SMARCAL1,NUP107 but notTRPC6 orPLCE1) have ocular features. The commonest genes affected in adult-onset FSGS (COL4A3 –COL4A5,GLA ) have ocular abnormalities but not the other frequently affected genes (ACTN4,CD2AP,INF2,TRPC6). Common ocular associations of genetic FSGS include cataract, myopia, strabismus, ptosis and retinal  atrophy. Mitochondrial forms of FSGS (MELAS, MIDD, Kearn’s Sayre disease) are associated with retinal atrophy and inherited retinal degeneration. Some genetic kidney diseases (CAKUT, ciliopathies, tubulopathies) that result in secondary forms of FSGS also have ocular features. Ocular manifestati ons suggest a genetic basis for FSGS, often help identify the affected gene, and prompt genetic testing. In general, ocular abnormalities require early evaluation by an ophthalmologist, and sometimes, monitoring or treatment to improve vision or prevent visual loss from complications. In addition, t he patient should be examine...
Source: Pediatric Nephrology - Category: Urology & Nephrology Source Type: research