{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,10]],"date-time":"2026-01-10T07:30:14Z","timestamp":1768030214122,"version":"3.49.0"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T00:00:00Z","timestamp":1666915200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Med."],"abstract":"<jats:sec><jats:title>Purpose<\/jats:title><jats:p>To evaluate the anterior segment in children with an R124L mutation corneal dystrophy (CD) using anterior segment optical coherence tomography (AS-OCT) and in vivo confocal microscopy (IVCM).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We investigated a family with prevalent CD and an R124L mutation; 59 individuals (14 patients; 6 male and 8 female, aged 2\u201369 years, 6 children, 2:4 male: female ratio) from four generations were included. We observed corneal lesions through ophthalmologic examinations, AS-OCT, and IVCM. The mean follow-up was 4.60 \u00b1 3.91 years.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The mean age for childhood CD onset was 0.90 \u00b1 0.61 years. An Avelino DNA test revealed a heterozygous R124L mutation. Clinical manifestations included recurrent photophobia, tearing, and a foreign body sensation. Recurrence frequency decreased with age. Slit lamp microscopy revealed a rough corneal epithelium. The anterior matrix under the corneal epithelium and the anterior elastic layer were scattered with gray and white opacity. From onset to follow-up, the children\u2019s visual acuity decreased from 0.34 \u00b1 0.12 to 0.55 \u00b1 0.17 LogMAR units. AS-OCT showed uneven corneal epithelial thickness. The Bowman\u2019s layer was replaced by abnormal substances in the anterior segment. Corneal deposits became increasingly thicker; the average thickness at the last follow-up was 102.78 \u00b1 10.13 \u03bcm. IVCM revealed uneven and reflective signals in the corneal upper cortex and subepithelium, with unclear boundaries and a loss of normal cell morphology.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We report an early age of onset in a family with prevalent CD due to R124L mutations. AS-OCT is a convenient, quick, and non-contact tool for screening and monitoring the pathological process of CD.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fmed.2022.991204","type":"journal-article","created":{"date-parts":[[2022,10,28]],"date-time":"2022-10-28T08:26:23Z","timestamp":1666945583000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["The observation of anterior segment in children with an R124L mutation corneal dystrophy by anterior segment optical coherence tomography and in vivo confocal microscopy"],"prefix":"10.3389","volume":"9","author":[{"given":"Mengjun","family":"Fu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Haorun","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rui","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xingtao","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2022,10,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"118","DOI":"10.17116\/oftalma2018134051118","article-title":"[Corneal dystrophies]","volume":"134","author":"Trufanov","year":"2018","journal-title":"Vestn 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