Meretoja's Syndrome: Lattice Corneal Dystrophy, Gelsolin Type.

Area of Science:

• Genetics
• Ophthalmology
• Neurology

Background:

• Lattice corneal dystrophy gelsolin type (Meretoja syndrome) is an autosomal dominant disorder caused by gelsolin gene mutations.
• It leads to amyloid deposition and affects multiple organs, typically manifesting after age 30.
• Key features include facial paralysis, skin laxity, and lattice corneal dystrophy.

Observation:

• A 53-year-old female presented with severe dry eye and incomplete eyelid closure.
• She had a history of Meretoja syndrome diagnosed at age 50, confirmed by gelsolin mutation.
• Ocular examination revealed reduced tear film, keratitis, corneal opacification, and neovascularization.

Findings:

• The patient exhibited bilateral diminished tear film break-up time and Schirmer test results.
• Diffuse keratitis, corneal opacification, and neovascularization were noted in the left eye.
• Ocular symptoms preceded other systemic manifestations.

Implications:

• Ophthalmologists play a critical role in the early diagnosis and management of Meretoja syndrome.
• Prompt identification of ocular symptoms is essential for timely intervention.
• Comprehensive care involving lubricants, anti-inflammatories, and eyelid occlusion can manage ocular complications.