Gelatinous Drop-Like Corneal Dystrophy - 2 Clinical Cases.

Area of Science:

• Ophthalmology
• Genetics
• Pathology

Background:

• Gelatinous drop-like corneal dystrophy (GDLD) is a rare, inherited corneal dystrophy.
• It is characterized by epithelial and subepithelial deposits, often presenting in young patients.
• The condition results from a compromised epithelial barrier leading to protein accumulation.

Observation:

• Patients present with characteristic drop-like corneal lesions and significant fluorescein uptake.
• The disease course is often prolonged with frequent recurrences.
• Histopathology reveals subepithelial amyloid deposits, Bowman's layer defects, and epithelial atrophy.

Findings:

• The underlying cause is a dysfunction of the corneal epithelial barrier.
• Protein deposits, likely from tear fluid, accumulate in the subepithelial space.
• Amyloid deposition is a key histological feature.

Implications:

• Understanding the pathogenesis aids in diagnosing and managing GDLD.
• Early diagnosis and intervention can potentially improve patient outcomes.
• Corneal transplantation (penetrating allogenic keratoplasty) offers a curative option when conservative treatments fail.