{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:05:25Z","timestamp":1791849925118,"version":"4.3.4"},"reference-count":16,"publisher":"MDPI AG","issue":"4","license":[{"start":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T00:00:00Z","timestamp":1774569600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"the Research to Prevent Blindness\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t              https:\/\/ror.org\/04drjs621"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>MAF encodes a transcription factor involved in T-helper-2 (Th2) cell differentiation. Heterozygous pathogenic variants in MAF have been observed in both isolated and syndromic congenital cataract cases; genotype\u2013phenotype correlations are based on the location of the variant within the gene. Variants in the N-terminus domain of MAF are associated with cataracts as part of Aym\u00e9-Gripp syndrome. The purpose of this report is to expand the ocular phenotypic spectrum of Aym\u00e9-Gripp syndrome by describing a patient with MAF variant c.185C&gt;G, p.Thr62Arg, and the traditional systemic findings and congenital cataracts as well as an unusual feature of pigmentary retinopathy, which has not been previously reported in Aym\u00e9-Gripp syndrome. Additionally, a comprehensive review of the literature was completed to report ocular genotype\u2013phenotype data on previously reported patients with MAF-associated Aym\u00e9-Gripp syndrome.<\/jats:p>","DOI":"10.3390\/genes17040380","type":"journal-article","created":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T12:45:53Z","timestamp":1774615553000},"page":"380","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A Case of Aym\u00e9-Gripp Syndromic Congenital Cataracts and Pigmentary Retinopathy Caused by a Novel MAF Variant in the N-Terminal Transactivation Domain\u2014A Case Report and Literature Review"],"prefix":"10.3390","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-7284-2433","authenticated-orcid":false,"given":"Max","family":"Chauhan","sequence":"first","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaersti L.","family":"Rickels","sequence":"additional","affiliation":[{"name":"Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6506-1096","authenticated-orcid":false,"given":"Sudhi P.","family":"Kurup","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8961-6343","authenticated-orcid":false,"given":"Brenda L.","family":"Bohnsack","sequence":"additional","affiliation":[{"name":"Division of Ophthalmology, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Ophthalmology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5233-2937","authenticated-orcid":false,"given":"Alexander","family":"Ing","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1822-1728","authenticated-orcid":false,"given":"Andy","family":"Drackley","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Allison","family":"Goetsch Weisman","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"},{"name":"Edwards Family Division of Genetics & Rare Diseases, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valerie","family":"Allegreti","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"},{"name":"Edwards Family Division of Genetics & Rare Diseases, Ann & Robert H. 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Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"},{"name":"Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7530-8127","authenticated-orcid":false,"given":"Andrew","family":"Skol","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. Lurie Children\u2019s Hospital of Chicago, Chicago, IL 60611, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9635-932X","authenticated-orcid":false,"given":"Patrick","family":"McMullen","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Ann & Robert H. 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