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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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Nonsense mutations of TGFBI (p.(Arg179*) and p.(Tyr468*)) manifested severe granular corneal dystrophy 2 (GCD2) phenotypes. (a) Slit-lamp photographs of members of Family 8. Extensive multiple discoid granular deposits, with some annular deposits, were detected, resembling the features of homozygous GCD2 in Proband 8 carrying TGFBI p.(Arg179*) and p.(Arg124His) mutations. Her father carrying heterozygous TGFBI p.(Arg124His) mutation showed milder phenotypes than the proband, and the mother carrying heterozygous TGFBI p.(Arg179*) showed no corneal opacity. (b) Slit-lamp photographs of Proband 9 and his mother. Proband 9 harboured compound heterozygous TGFBI p.(Tyr468*) and p.(Arg124His) mutations and showed more severe discoid granular deposits than his mother who harboured heterozygous TGFBI p.(Arg124His) mutation.