Abstract / Summary
Rationale: Gelatinous drop-like corneal dystrophy (GDLD) is a rare autosomal recessive disorder characterized by subepithelial amyloid deposition, progressive corneal opacification, and recurrent erosions. GDLD may present during the first decade of life and interfere with visual development. It may recur after keratoplasty, complicating surgical management. Patient concerns: A 21-year-old woman of Yemeni ancestry, living in a remote area with limited access to corneal transplantation, presented with progressive left eye visual decline and foreign body sensation since early childhood. She had long-standing bilateral visual impairment and a positive family history. Her first surgery was right eye penetrating keratoplasty (PK), performed elsewhere approximately 1 year earlier for an undiagnosed opacity. Diagnoses: Examination revealed nystagmus, a clear right graft with yellowish recipient deposits, and dense limbus-to-limbus left corneal opacification with stromal haze, mulberry-like deposits, and neovascularization. Uncorrected visual acuity (VA) was 20/200 in the right eye and counting fingers in the left. Best spectacle-corrected VA was 20/100 in the right eye, while reliable refraction could not be obtained in the left. Histopathology demonstrated Congo red-positive subepithelial amyloid deposits with birefringence under polarized light, confirming GDLD. Genetic testing for tumor-associated calcium signal transducer 2 was not performed. Interventions: The left eye underwent superficial keratectomy and attempted lamellar dissection assisted by intraoperative optical coherence tomography; dense deep stromal opacity necessitated conversion to full-thickness PK. Outcomes: Both grafts remained clear without rejection during follow-up. Minimal focal subepithelial haze in a temporal area of the left donor graft was noted at the 2 most recent visits, remained stationary between them, and was clinically insignificant. At final follow-up, approximately 2 years after right eye PK and 10 months after left eye PK, best spectacle-corrected VA was 20/100 in the right eye and 20/80 − 1 in the left. Intraocular pressure was normal, and posterior pole examinations were unremarkable. Lessons: Advanced bilateral GDLD poses clinical and surgical challenges. PK may restore corneal clarity and provide meaningful visual rehabilitation, although recovery may remain incomplete after early-onset visual impairment and delayed treatment. Long-term monitoring is essential because recurrence and repeat intervention may be required. Early recognition, timely referral, and individualized management matter where donor corneal tissue access is limited.