Figure 3 | Scientific Reports

Figure 3

From: Compound heterozygous mutations in TGFBI cause a severe phenotype of granular corneal dystrophy type 2

Figure 3The alternative text for this image may have been generated using AI.

TGFBI p.(Tyr88Cys), p.(Arg257Pro), and p.(Asn544Ser) mutations were accompanied by p.(Arg124His) mutation in patients with severe phenotypes. (a) Slit-lamp photographs of Proband 5 and her parents (Family 5). The proband showed numerous large discoid granular deposits. However, her mother carrying heterozygous p.(Arg124His) variant showed age-appropriate disease pattern, while the father carrying heterozygous p.(Tyr88Cys) variant showed no disease phenotype. (b) Slit-lamp photographs of the members of Family 6. Compound heterozygosity of TGFBI p.(Arg124His) and p.(Arg257Pro) mutations caused severe GCD2 phenotypes compared to the heterozygosity of TGFBI p.(Arg124His) mutation alone, although heterozygosity of TGFBI p.(Arg257Pro) mutation did not cause disease. (c) Slit-lamp photographs of Proband 7 carrying compound heterozygous mutations of TGFBI (p.(Arg124His) and p.(Asn544Ser)). The recurrence was very rapid after phototherapeutic keratectomy (PTK).

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