Research Article

Clinical and Ultrastructural Studies of Gelatinous Drop-Like Corneal Dystrophy (GDLD) of a Patient with TACSTD2 Gene Mutation

Table 1

Genetic analysis of GLCD. DNA sequence variation that occurs in at least 1% population and is nonpathogenic; DNA sequence variation that is pathogenic or possibly pathogenic.

Sample IDGeneExonNucleotide changeAmino acid changeGenotype resultsZygosityType of variationVerified sequence

MaleTACSTD2Ex1c.355T > Ap.Cys119SerA/THOMMut+

SNP: single nucleotide polymorphism, HOM: homozygous, HET: heterozygous, and Mut: mutation.