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Extra-renal manifestations are also common. This study reviewed diseases associated with the\u00a0Genomics England CAKUT-associated gene panel for ocular anomalies. In addition, each gene was examined for expression in the human retina and an ocular phenotype in mouse models using the Human Protein Atlas and Mouse Genome Informatics databases, respectively. Thirty-four (54%) of the 63 CAKUT-associated genes (55 \u2018green\u2019 and 8 \u2018amber\u2019) had a reported ocular phenotype. Five of the 6 most common CAKUT-associated genes (<jats:italic>PAX2<\/jats:italic>, <jats:italic>EYA1<\/jats:italic>, <jats:italic>SALL1<\/jats:italic>, <jats:italic>GATA3<\/jats:italic>, <jats:italic>PBX1)<\/jats:italic> that represent 30% of all diagnoses had ocular features. The ocular abnormalities found with most CAKUT-associated genes and with five of the six commonest were coloboma, microphthalmia, optic disc anomalies, refraction errors (astigmatism, myopia, and hypermetropia), and cataract. Seven of\u00a0the\u00a0CAKUT-associated genes studied\u00a0(11%) had no reported ocular features but were expressed in the human retina or had an ocular phenotype in a mouse model, which suggested further possibly-unrecognised abnormalities.\u00a0About one third of CAKUT-associated genes (18, 29%) had no ocular associations and were not expressed in the retina, and the corresponding mouse models had no ocular phenotype. Ocular abnormalities\u00a0in individuals with CAKUT suggest a genetic basis for the disease and sometimes indicate the affected gene. Individuals with CAKUT often have ocular abnormalities and may require an ophthalmic review, monitoring, and treatment to preserve vision.<\/jats:p>","DOI":"10.1007\/s00467-023-06068-9","type":"journal-article","created":{"date-parts":[[2023,7,20]],"date-time":"2023-07-20T02:01:59Z","timestamp":1689818519000},"page":"357-369","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)"],"prefix":"10.1007","volume":"39","author":[{"given":"James","family":"Virth","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heather G.","family":"Mack","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deb","family":"Colville","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma","family":"Crockett","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":[[2023,7,20]]},"reference":[{"issue":"Suppl 1","key":"6068_CR1","first-page":"S31","volume":"91","author":"M Loane","year":"2011","unstructured":"Loane M, Dolk H, Kelly A, Teljeur C, Greenlees R, Densem J, EUROCAT Working Group (2011) Paper 4: EUROCAT statistical monitoring: identification and investigation of ten year trends of congenital anomalies in Europe. 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