J Korean Ophthalmol Soc.  2013 Apr;54(4):667-670. 10.3341/jkos.2013.54.4.667.

Lattice Corneal Dystrophy, Gelsolin Type: The First Case Report in Korea

• Kim TH
• Bae JH
• Lim DH
• Chung ES
• Chung TY

• KMID: 2216952
• DOI: http://doi.org/10.3341/jkos.2013.54.4.667

Abstract

PURPOSE
To report the first case of lattice corneal dystrophy, gelsolin type in Korea.
CASE SUMMARY
A 61-year-old man visited our clinic with severe dry eye symptom in both eyes. Clinical examination revealed in both eyes a visual acuity of 0.7 without correction and intraocular pressure of 18 mm Hg. On slit-lamp examination, both corneas had scattered lattice lines at various depths within the stroma with punctate epithelial erosions. The patient had characteristic features of Meretoja syndrome, including cranial neuropathy characterized by dermatochalasis and facial weakness, and was positive for the gelsolin mutation according to DNA analysis. This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea.
CONCLUSIONS
This is the first description of a patient with lattice corneal dystrophy, gelsolin type in Korea and demonstrates the importance of recognizing the systemic and ophthalmic features for appropriate management of the condition.

Keyword

Amyloidosis; Gelsolin; Lattice corneal dystrophy; Meretoja syndrome

MeSH Terms

Amyloidosis
Cornea
Corneal Dystrophies, Hereditary
Cranial Nerve Diseases
DNA
Eye
Gelsolin
Humans
Intraocular Pressure
Korea
Visual Acuity
Amyloidosis
Corneal Dystrophies, Hereditary
DNA
Gelsolin

Figure

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  Figure 1. Photograph of the anterior cornea illustrating stromal lattice deposits. Lattice lines are seen centrally.

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  Figure 2. Clinical photographs illustrating a smooth brow, drooping face, and protuberant lip.

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  Figure 3. Direct sequencing of the GSN gene in the patient. A heterozygous missense mutation was identified in the patient: c.654G > T (p.Asp214Tyr) (arrow).

Reference

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