A patient with gelatinous drop-like corneal dystrophy: exome of the whole blood DNA and transcriptome of the cornea after limbal stem cell transplantation

Gelatinous drop-like corneal dystrophy (GDLD) is a variant of epithelial and subepithelial corneal dystrophies described as a rare autosomal recessive disease characterized by bilateral amyloid masses deposition in the subepithelial area of the cornea. Loss-of-function mutations in the TACSTD2 gene (Tumor-associated calcium signal transducer 2) reported as being causal for GDLD. Here we present exome sequencing of the GDLD patient who harbors a NM_002353.2:c.653del variant in the TACSTD2 gene. Also we report RNA-seq data of the cornea sample obtained from this GDLD patient. Allogeneic direct limbal stem cell transplantation was conducted on his right eye. Ten months later GDLD patient undergone keratoplasty on the right eye and cornea sample was obtained. RNA was isolated from this cornea sample and used for transcriptome construction. This cornea sample contains donor and host cells, so the results of transcriptome analysis should be treated with care. Ninety-seven percent of the reads covering the mutation site harbored a reference nucleotide. These results indicated that the epithelium was restored by donor cells. Despite this, amyloid masses continued to deposit in the patient's eye. Thus, we provide evidence that allogeneic direct limbal stem cell transplantation does not prevent GDLD recurrence.