Clinical and Genetic Features of Gelatinous Drop-Like Corneal Dystrophy: First Cohort from Türkiye with a Novel TACSTD2 Mutation

Gelatinous Drop-Like Corneal Dystrophy in Türkiye

Abstract

Objective: To describe the clinical and genetic findings, as well as treatment outcomes, in patients with gelatinous drop-like corneal dystrophy (GDLD) from a single center in Türkiye.

Methods: In this retrospective study, 10 patients from five families who were clinically diagnosed with GDLD at the Ophthalmology Department of Gazi University Medical Faculty were included. Genetic analysis was performed using Sanger sequencing of the coding regions of the tumor-associated calcium signal transducer 2 (TACSTD2) gene and of exons 4 and 12 of the transforming growth factor-beta-induced (TGFBI) gene. Clinical findings, treatment modalities, and follow-up outcomes were documented.

Results: One novel TACSTD2 mutation (c.779del, p.Tyr260SerfsTer11) and two previously reported TACSTD2 mutations, c.355T>A (p.C119S) and c.341T>G (p.F114C), were identified in three families. In one family, no disease-associated variants were detected in either TGFBI or TACSTD2. The most common initial symptoms were photophobia, corneal pain, and blurred vision, and the mean age at onset was 11.3 years. The follow-up duration ranged from 2 to 21 years, and seven patients required repeated surgical interventions. Epithelial debridement followed by diamond burr polishing (ED-DBP) was performed in seven patients, resulting in symptomatic improvement and delaying the need for keratoplasty.

Conclusion: This is the first report of the clinical and genetic characteristics of GDLD patients from Central Anatolia, and it expands the TACSTD2 mutational spectrum with a novel variant. ED-DBP is proposed as a treatment modality for GDLD; it may not halt disease progression but can alleviate corneal discomfort, temporarily improve vision, and postpone corneal transplantation.