LAUSR

Supplemental Digital Content is Available in the Text. Purpose: The purpose of this article was to describe the successful diagnosis and management of clinically atypical, unilateral, gelatinous drop-like corneal dystrophy (GDLD) in a pediatric patient. Methods: This study was a case report. Results: A 7-year-old Japanese girl was referred to our clinic with right corneal opacity for over 3 years. Slitlamp examination revealed a white, protruding, paracentral corneal opacity with an irregular surface and tiny stromal lattice figures with subepithelial opacities. No trichiasis or epiblepharon was observed, and the patient's right corrected distance visual acuity (CDVA) was 18/20. The contralateral cornea was intact but demonstrated fluorescein uptake. After 8 months, the right CDVA worsened from 18/20 to 6/20, and corneal epithelial scraping was performed. Histopathological analysis revealed amyloid nodules in the subepithelial layer and in the anterior corneal stroma stained with Congo red, which reoccurred 2 months after the procedure, and corneal dystrophy was suspected. Isolation and sequencing of the genomic DNA revealed a homozygous p.Gln118Ter. mutation in TACSTD2 in the patient and heterozygous p.Gln118Ter. mutations in both parents. GDLD was diagnosed; bilateral use of therapeutic soft contact lenses was prescribed after the first corneal scraping. No additional surgical intervention was required for the right eye for 4.5 years. CDVA of the contralateral left eye has been successfully maintained at 30/20 over this period, without emergence of nodular lesions or corneal opacities. Conclusions: We encountered a patient with early, atypical GDLD, who was definitively diagnosed using genomic DNA sequencing. GDLD should be a part of the differential diagnosis in patients presenting with unilateral, recurrent amyloid deposition.