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Transthyretin Ser-44 mutation in a case with vitreous amyloidosis
Akira Murakami1, Keiko Fujiki, Sachiko Hasegawa
1Department of Ophthalmology, Juntendo University School of Medicine, Tokyo, Japan. amurak@med.juntendo.ac.jp
Purpose:
To report a case of vitreous amyloidosis associated with a transthyretin Ser-44 mutation.
Methods:
Interventional case report. A 44-year-old Japanese woman had a 2-month history of visual disturbance in both eyes. The vitreous and conjunctival specimens were subjected to histopathological examination. DNA was isolated from peripheral blood cells of the patient. The transthyretin gene was amplified and directly sequenced.
Results:
The vitreous and conjunctiva specimens showed typical light microscopic features of amyloidosis. Direct sequencing of the transthyretin gene revealed a single base-pair substitution, which results in an amino acid substitution at position 44, phenylalanine to serine (transthyretin Ser-44).
Conclusion:
Transthyretin Ser-44 may cause vitreous amyloidosis.