{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T03:00:08Z","timestamp":1792206008805,"version":"4.4.0"},"reference-count":20,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2025,1,11]],"date-time":"2025-01-11T00:00:00Z","timestamp":1736553600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Research Foundation of Korea (NRF)","award":["RS-2024-00352929"],"award-info":[{"award-number":["RS-2024-00352929"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>(1) Background: The phenotypes of classic lattice corneal dystrophy (LCD) and granular corneal dystrophy type 2 (GCD2) that result from abnormalities in transforming growth factor \u03b2-induced gene (TGFBI) have previously been described. The phenotype of compound heterozygous classic LCD and GCD2, however, has not yet been reported. (2) Case report: A 39-year-old male (proband) presented to our clinic complaining of decreased vision bilaterally. A slit-lamp examination revealed corneal opacities consistent with classic LCD. Contrast sensitivity (CS) was decreased. A genetic analysis performed with commercially available real-time polymerase chain reaction (PCR) showed both homozygous classic LCD and homozygous GCD2. Sanger sequencing performed in our lab suggested compound heterozygosity for c.370C&gt;T and c.371G&gt;A variants, which was confirmed by the TA cloning of exon 4 of TGFBI and sequencing of clones. Phototherapeutic keratectomy (PTK) was performed on the right eye of the proband, and the CS improved. (3) Conclusions: Compound heterozygous classic LCD and GCD2 produces clinical findings like that of severe, classic LCD. PTK can improve VA and CS, delaying the need for keratoplasty.<\/jats:p>","DOI":"10.3390\/genes16010076","type":"journal-article","created":{"date-parts":[[2025,1,13]],"date-time":"2025-01-13T09:49:17Z","timestamp":1736761757000},"page":"76","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Compound Heterozygous p.(R124C) (Classic Lattice Corneal Dystrophy) and p.(R124H) (Granular Corneal Dystrophy Type 2) in TGFBI: Phenotype, Genotype, and Treatment"],"prefix":"10.3390","volume":"16","author":[{"given":"Ji Sang","family":"Min","sequence":"first","affiliation":[{"name":"The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"},{"name":"Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6414-3842","authenticated-orcid":false,"given":"Tae-im","family":"Kim","sequence":"additional","affiliation":[{"name":"The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"},{"name":"Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2160-1679","authenticated-orcid":false,"given":"Ikhyun","family":"Jun","sequence":"additional","affiliation":[{"name":"The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"},{"name":"Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3635-1913","authenticated-orcid":false,"given":"R. Doyle","family":"Stulting","sequence":"additional","affiliation":[{"name":"Woolfson Eye Institute, Atlanta, GA 30328, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Changrae","family":"Rho","sequence":"additional","affiliation":[{"name":"Saevit Eye Hospital, Goyang-si 10447, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4757-1575","authenticated-orcid":false,"given":"Sang Beom","family":"Han","sequence":"additional","affiliation":[{"name":"Saevit Eye Hospital, Goyang-si 10447, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heeyoung","family":"Kim","sequence":"additional","affiliation":[{"name":"Saevit Eye Hospital, Goyang-si 10447, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jinseok","family":"Choi","sequence":"additional","affiliation":[{"name":"Saevit Eye Hospital, Goyang-si 10447, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8607-6625","authenticated-orcid":false,"given":"Jinu","family":"Han","sequence":"additional","affiliation":[{"name":"Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul 06273, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1453-8042","authenticated-orcid":false,"given":"Eung Kweon","family":"Kim","sequence":"additional","affiliation":[{"name":"The Cornea Dystrophy Research Institute, Yonsei University College of Medicine, 50-1 Yonsei-ro, Seodaemungu, Seoul 03722, Republic of Korea"},{"name":"Saevit Eye Hospital, Goyang-si 10447, Republic of Korea"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,1,11]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1186\/1750-1172-4-7","article-title":"Corneal dystrophies","volume":"4","author":"Klintworth","year":"2009","journal-title":"Orphanet J. 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