{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T11:11:06Z","timestamp":1769166666747,"version":"3.49.0"},"reference-count":7,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T00:00:00Z","timestamp":1691020800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Microcephaly and chorioretinopathy are genetic disorders that are inherited in an autosomal recessive manner. The most frequent ocular manifestation is the presence of lacunar atrophy in the retina and choroid. The diagnosis of this condition can be challenging as several potential causes and related syndromes need to be ruled out. We present two cases of microcephaly and chorioretinopathy in Mexican patients, their clinical characterization, and discuss the differential diagnoses that should be considered. An 8-year-old girl was examined due to a history of decreased vision in both eyes. Fundus examination showed excavated, well-defined, sectorial, bilateral, and symmetrical areas of chorioretinal atrophy. An 18-year-old male had a history of poor vision since childhood. Previous ophthalmological examinations reported bilateral symmetric chorioretinal atrophy with pigment accumulation. Both patients had a prior diagnosis of microcephaly and language delay. Blood tests and a comprehensive systemic evaluation ruled out intrauterine infections. The electroretinogram showed decreased amplitude and increased implicit time in the photopic and scotopic responses. Genetic tests revealed mutations in the TUBGCP4 gene, leading to a diagnosis of microcephaly and chorioretinopathy. As observed in these cases, there was variability in retinal lesions. The presence of chorioretinal lacunae and genetic testing can help to correctly diagnose this disorder.<\/jats:p>","DOI":"10.3390\/diagnostics13152588","type":"journal-article","created":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T11:13:06Z","timestamp":1691061186000},"page":"2588","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Microcephaly and Chorioretinopathy Relevance as a Differential Diagnosis"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0995-4252","authenticated-orcid":false,"given":"Mauricio","family":"Bayram-Suverza","sequence":"first","affiliation":[{"name":"Retina Department, Fundaci\u00f3n Hospital de Nuestra Se\u00f1ora de La Luz, Mexico City 06030, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karla Alejandra","family":"Torres-Navarro","sequence":"additional","affiliation":[{"name":"Retina Department, Fundaci\u00f3n Hospital de Nuestra Se\u00f1ora de La Luz, Mexico City 06030, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4131-7825","authenticated-orcid":false,"given":"\u00c1ngeles Yahel","family":"Hern\u00e1ndez-V\u00e1zquez","sequence":"additional","affiliation":[{"name":"Retina Department, Fundaci\u00f3n Hospital de Nuestra Se\u00f1ora de La Luz, Mexico City 06030, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan Abel","family":"Ram\u00edrez-Estudillo","sequence":"additional","affiliation":[{"name":"Retina Department, Fundaci\u00f3n Hospital de Nuestra Se\u00f1ora de La Luz, Mexico City 06030, Mexico"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,3]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"354","DOI":"10.1016\/j.pedneo.2021.05.008","article-title":"Microcephaly, an etiopathogenic vision","volume":"62","year":"2021","journal-title":"Pediatr. Neonatol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1080\/13816810.2020.1747084","article-title":"TUBGCP4\u2014Associated microcephaly and chorioretinopathy","volume":"41","author":"Motta","year":"2020","journal-title":"Ophthalmic Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1186\/s13256-018-1679-y","article-title":"Ocular abnormalities in congenital Zika syndrome: A case report, and review of the literature","volume":"12","author":"Guevara","year":"2018","journal-title":"J. Med. Case Rep."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"157","DOI":"10.3109\/13816810903147980","article-title":"Microcephaly with chorioretinal dysplasia: Two case reports and a review of the literature","volume":"30","author":"Gupta","year":"2009","journal-title":"Ophthalmic Genet."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"881","DOI":"10.1038\/ejhg.2013.263","article-title":"Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): Review of phenotype associated with KIF11 mutations","volume":"22","author":"Jones","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"288","DOI":"10.3928\/0191-3913-20020901-09","article-title":"An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration","volume":"39","author":"Simonelli","year":"2002","journal-title":"J. Pediatr. Ophthalmol. Strabismus"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1167\/iovs.61.13.2","article-title":"Genotype phenotype correlation and variability in microcephaly associated with chorioretinopathy or familial exudative vitreoretinopathy","volume":"61","author":"Shurygina","year":"2020","journal-title":"Investig. Ophthalmol. Vis. Sci."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/15\/2588\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T20:25:15Z","timestamp":1760127915000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/13\/15\/2588"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,3]]},"references-count":7,"journal-issue":{"issue":"15","published-online":{"date-parts":[[2023,8]]}},"alternative-id":["diagnostics13152588"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics13152588","relation":{},"ISSN":["2075-4418"],"issn-type":[{"value":"2075-4418","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,3]]}}}