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This study examined FSGS-associated genes from the Genomics England Renal proteinuria panel\u00a0for\u00a0reported 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 (<jats:italic>NPHS1<\/jats:italic>, <jats:italic>NPHS2<\/jats:italic>, <jats:italic>WT1<\/jats:italic>, <jats:italic>LAMB2<\/jats:italic>, <jats:italic>PAX2<\/jats:italic> but not <jats:italic>PLCE1<\/jats:italic>) may have\u00a0ocular manifestations . Many genes affected in childhood\u2013adolescent onset FSGS (<jats:italic>NPHS1<\/jats:italic>, <jats:italic>NPHS2<\/jats:italic>, <jats:italic>WT1<\/jats:italic>, <jats:italic>LAMB2<\/jats:italic>, <jats:italic>SMARCAL1<\/jats:italic>, <jats:italic>NUP107<\/jats:italic> but not <jats:italic>TRPC6<\/jats:italic> or <jats:italic>PLCE1<\/jats:italic>) have ocular features. The commonest genes affected in adult-onset FSGS (<jats:italic>COL4A3\u2013COL4A5,<\/jats:italic><jats:italic>GLA<\/jats:italic> ) have ocular abnormalities but not the other frequently affected genes (<jats:italic>ACTN4<\/jats:italic>, <jats:italic>CD2AP<\/jats:italic>, <jats:italic>INF2<\/jats:italic>, <jats:italic>TRPC6<\/jats:italic>). Common ocular associations of genetic FSGS include cataract, myopia, strabismus, ptosis and retinal\u00a0atrophy. Mitochondrial forms of FSGS (MELAS, MIDD, Kearn\u2019s 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 manifestations 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, the patient should be examined for other syndromic features and first degree family members assessed.<\/jats:p>","DOI":"10.1007\/s00467-023-06073-y","type":"journal-article","created":{"date-parts":[[2023,8,14]],"date-time":"2023-08-14T08:01:46Z","timestamp":1692000106000},"page":"655-679","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Ocular manifestations of the genetic causes of focal and segmental glomerulosclerosis"],"prefix":"10.1007","volume":"39","author":[{"given":"Victor","family":"Zhu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tess","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deb","family":"Colville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather","family":"Mack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6813-0288","authenticated-orcid":false,"given":"Judy","family":"Savige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,8,14]]},"reference":[{"key":"6073_CR1","doi-asserted-by":"publisher","first-page":"76","DOI":"10.1038\/nrneph.2014.216","volume":"11","author":"AB Fogo","year":"2015","unstructured":"Fogo AB (2015) Causes and pathogenesis of focal segmental glomerulosclerosis. 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