A case of familial amyloid polyneuropathy type IV (Finnish type) with lattice corneal dystrophy type II
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Accession number;04A0155707
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| Title;A case of familial amyloid polyneuropathy type IV (Finnish type) with lattice corneal dystrophy type II |
| Author;
SEKINE HISAKI
(Univ. Tokyo, Graduate School of Medicine, JPN)
OBATA HIROTO
(Jichi Medical School, Dep. Medicine, JPN)
SHIRATO SHIROAKI
(Tokyo Medeical Univ., Hachioji Medical Center, JPN)
KUSUNOKI SUSUMU
(Univ. Tokyo, Graduate School of Medicine, JPN)
TSURU TADAHIKO
(Jichi Medical School, Dep. Medicine, JPN)
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Journal Title;Japanese Journal of Clinical Ophthalmology
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Journal Code:Z0515B
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ISSN:0370-5579
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VOL.58;NO.2;PAGE.217-222(2004)
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| Figure&Table&Reference;FIG.6, REF.20 |
| Pub. Country;Japan |
| Language;Japanese |
| Abstract;A 61-year-old woman had been under treatment for difficulty in articulation since 2 years before. She was referred to us for suspected familial amyloidosis (Finnish type, FAF). Her corrected visual acuity was 0.4 right and 0.6 left. She was receiving topical medications for open-angle glaucoma. Both eyes showed lattice corneal dystrophy and opaque spots. The corneal thickness and endothelial cell population were within normal range. Both eyelids were fluffy and ptotic manifesting lagophthalmos. Gene analysis showed G654A, or mutation of guanine to adenine at the 654th base of gelsolin. This finding was the same as in cases in Finland. This patient illustrates that lattice corneal dystrophy type II has a diagnostic value in FAF and that due attention is necessary to glaucoma which may be an associated feature. This case was not genetically related to previously reported cases of FAF in Japan. (author abst.) |
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