Figure 1 | Scientific Reports

Figure 1

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

Figure 1The alternative text for this image may have been generated using AI.

TGFBI p.(His174Asp) variant aggravates granular corneal dystrophy 2 caused by p.(Arg124His) mutation in a compound heterozygote. (a) Slit-lamp photographs of the members of Family 1. Severe confluent granular deposits with lattice deposits were observed in Proband 1. Her brother’s eyes also showed severe snowflake-like corneal deposits. (b) Pedigree of Family 1 showed both proband and her brother to have inherited the mutations in trans-phase. (c) Slit-lamp photographs of Family 2. The cornea of Proband 2 showed intensive opacities, whereas that of his mother showed mild phenotype. (d) Slit-lamp photograph of Proband 3 showed coarse granular and lattice deposits.

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