PMC3913985_01
Corneal photographs of lattice corneal dystrophy type IV patients. (A) The right eye was the more severely affected eye, displaying nodulolinear amyloid deposits (arrow). (B) The deposits are mainly located in anterior stroma (arrowhead). (C) The left eye showed less linear and macular opacity than the right.
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F1
The opacity showed lattice-shaped, granular deposits with asymmetrical patterns in the stroma (Fig. 1).
Open-frame sequencing of the TGFBI gene from the patient. Direct sequencing of polymerase chain reaction products corresponding to exon 12 of TGFBI. (A) Heterozygous mutation, c.1580T>G (arrow) was detected in the TGFBI gene. (B) Heterozygous c.1620T>C p.Phe540Phe (rs4669) was detected (arrow). (C) Heterozygous c.1678+23G>A (rs2072239) was detected (arrow).
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F2
Polymerase chain reaction was performed on this genomic DNA with specific primers for the TGFBI gene (Table 1); the results showed a Leu527Arg mutation in the TGFBI gene (Fig. 2A). In addition to the Leu527Arg mutation, two more single-nucleotide polymorphisms (SNPs) were also identified: a T>C variation at cDNA position 1620 resulting in Phe540Phe and a G>A variation at cDNA position 1678+23 (Fig. 2B and 2C).