A Novel Homozygous Nonsense Mutation in TACSTD2 Gene Causes Gelatinous Drop-like Corneal Dystrophy in a Chinese Consanguineous Family: A Case Report and Literature Review.

Abstract

Purpose: To report a case of gelatinous drop-like corneal dystrophy (GDLD) caused by a novel homozygous tumor-associated calcium signal transducer 2 (TACSTD2) gene mutation and summarize the correlations of clinical phenotypes and genotypes in patients with GDLD.

Methods: We analyzed the clinical characteristics and treatment outcomes of a 42-year-old man with GDLD. The patient with GDLD received multiple keratoplasties, and histopathological staining of the corneal sections was performed. We performed genetic testing and clinical evaluations on all family members. In addition, we conducted a literature review of previously reported patients with GDLD with pathogenic TACSTD2 gene mutations.

Results: Genetic sequencing of the proband identified a novel nonsense homozygous mutation c.588C > A in the TACSTD2 gene. The histopathological analysis revealed intense amyloid deposition in the subepithelial region of the cornea. We summarized the clinical features of patients with GDLD with 33 previously reported TACSTD2 gene mutations.

Conclusions: This study reported a novel homozygous nonsense mutation in a Chinese patient with GDLD, thereby expanding the mutation spectrum of the TACSTD2 gene.