{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T03:37:40Z","timestamp":1775705860226,"version":"3.50.1"},"reference-count":31,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2022,5,28]],"date-time":"2022-05-28T00:00:00Z","timestamp":1653696000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Background: Mutations of the transforming growth factor-\u03b2-induced (TGFBI) gene produce various types of corneal dystrophy. Here, we report a novel de novo L509P mutation not located in a known hot spot of the transforming growth factor-\u03b2-induced (TGFBI) gene and its clinical phenotype, which resembles that of lattice corneal dystrophy type IIIA (LCD IIIA). Case presentation: A 36-year-old man (proband) visited our clinic due to decreased visual acuity with intermittent ocular irritation in conjunction with painful recurrent erosions in both eyes for 10 years. Molecular genetic analyses revealed a TGFBI L509P mutation (c.1526T&gt;C) in the proband and one of his sons. Interestingly, neither TGFBI mutations nor corneal abnormalities were detected in either of the proband\u2019s biological parents, indicating the occurrence of a de novo L509P mutation. Clinical examinations, including slit-lamp retro-illumination and Fourier-domain anterior segment optical coherence tomography (FD-OCT), revealed gray deposits in the anterior stroma and deeper refractile lines extending from limbus to limbus in both corneas of the proband, consistent with a diagnosis of LCD IIIA. Superficial diffuse haze and surface irregularity were observed in conjunction with corneal erosions and visual impairment, necessitating phototherapeutic keratectomy (PTK). A 60 \u03bcm PTK of the Bowman layer and anterior stroma of the proband\u2019s left eye was performed following the removal of the epithelium in order to remove superficial corneal opacities. His BCVA improved from 20\/400 to 20\/50 at postoperative week 8 and was maintained for 45 months. Pinhole-corrected VA was 20\/20 at the last visit, and corneal opacities had not recurred. Conclusions: An inheritable de novo mutation of L509P in the TGFBI gene can produce severe LCD IIIA, which can be successfully treated with OCT-guided PRK.<\/jats:p>","DOI":"10.3390\/jcm11113055","type":"journal-article","created":{"date-parts":[[2022,5,29]],"date-time":"2022-05-29T08:50:51Z","timestamp":1653814251000},"page":"3055","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7211-6278","authenticated-orcid":false,"given":"Yong Woo","family":"Ji","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Yongin Severance Hospital, Yonsei University College of Medicine, Yongin 16995, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hyunmin","family":"Ahn","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kyoung-Jin","family":"Shin","sequence":"additional","affiliation":[{"name":"Department of Forensic Medicine, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae-im","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea"},{"name":"Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9855-1980","authenticated-orcid":false,"given":"Kyoung Yul","family":"Seo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Institute of Vision Research, Severance Hospital, Yonsei University College of Medicine, Seoul 03722, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. Doyle","family":"Stulting","sequence":"additional","affiliation":[{"name":"Woolfson Eye Institute, Atlanta, GA 30328, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eung Kweon","family":"Kim","sequence":"additional","affiliation":[{"name":"Corneal Dystrophy Research Institute, Yonsei University College of Medicine, Seoul 03722, Korea"},{"name":"Saevit Eye Hospital, Goyang 10447, Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2022,5,28]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Hoersch, S., and Andrade-Navarro, M.A. (2010). Periostin shows increased evolutionary plasticity in its alternatively spliced region. BMC Evol. 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