Familial Gelatinous Drop-Like Corneal Dystrophy Caused by a Novel Nonsense TACSTD2 Mutation

Abstract

To describe the clinical findings and results of molecular analysis in a Mexican family diagnosed with gelatinous drop-like corneal dystrophy (GDLD). Ophthalmological examination was performed in 1 unaffected and 4 affected relatives. Molecular analysis included polymerase chain reaction amplification and direct nucleotide sequencing of the entire TACSTD2 gene-coding region in genomic DNA. The corneal phenotype in adult patients was characterized by white-yellow nodular lesions on the corneal surface and stromal neovascularization. Lesions were incipient in an affected relative aged 14 years. Nucleotide sequencing of the TACSTD2 gene demonstrated a homozygous c.331G>T transversion, which predicts a novel p.(E111*) nonsense mutation, in DNA of all 4 GDLD relatives. Our results expand the mutational spectrum of TACSTD2 in patients with GDLD. To the best of our knowledge, this is the first clinical and molecular description of patients with GDLD from Latin America.