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. 2021 Mar 26;11:6986. doi: 10.1038/s41598-021-86414-9

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Compound heterozygous mutations, p.(Ile247Asn) and p.(Arg124His), in TGFBI. (a) Slit-lamp photographs of Proband 4 (Family 4). Intensive snowflake-like corneal deposits were noted at the age of 25 years, and rapid recurrence occurred after phototherapeutic keratectomy (PTK). Following deep anterior lamellar keratoplasty (DALK), the cornea has been well-maintained since the past 3 years. (b) Pedigree of Family 4 confirmed compound heterozygosity. (c) Slit-lamp photographs of the parents of Proband 4. The mother, who only had heterozygous p.(Arg124His) mutation in TGFBI, showed milder phenotypes than the son, and the father, who had heterozygous p.(Ile247Asn) mutation in TGFBI, showed a clear cornea. Although TGFBI p.(Ile247Asn) mutation itself was silent, when accompanying p.(Arg124His) mutation, phenotypes of granular corneal dystrophy 2 became extensive and recurrence occurred rapidly after PTK.