Corneal vesicles accumulate collagen VI associated with tissue remodeling in apolipoprotein a-I deficiency: a case report.
BACKGROUND
Apo A-I deficiency clinically shows low serum levels of HDL cholesterol and corneal opacity at a young age. Histopathological evaluations of affected corneas are not enough, and the mechanism of corneal opacity is still unclear.


METHODS
A 61-year-old woman suffered from blurred vision with a corneal opacity. She had significantly reduced serum levels of high-density lipoprotein cholesterol and Apo A-I, stenosis of the coronary arteries, and ischemic heart failure. On genetic examination, a homozygous mutation of Apo A-ITsukubawas identified. Histopathological examination of the corneal button after PKP showed numerous vesicles in the corneal stroma, which were more prominent in the deep stroma than in the shallow stroma. Collagen VI was observed in some of those vesicles.


CONCLUSIONS
We experienced a rare case of corneal opacity due to Apo A-I deficiency. Our histopathological findings indicated that structural changes in corneal collagen fibrils contribute to the formation of stromal vesicles.
Department of Ophthalmology and Visual Sciences, Yamagata University Faculty of Medicine, 2-2-2 Iidanishi, 9909585, Yamagata City, Yamagata, Japan. h-nanba@med.id.yamagata-u.ac.jp.
Hiroyuki
http://orcid.org/0000-0002-3879-7970
H
Namba
Department of Ophthalmology and Visual Sciences, Yamagata University Faculty of Medicine, 2-2-2 Iidanishi, 9909585, Yamagata City, Yamagata, Japan.
Mari
M
Narumi
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata City, Yamagata, Japan.
Shinji
S
Susa
Department of Diagnostic Pathology, Yamagata University Faculty of Medicine, Yamagata City, Yamagata, Japan.
Rintaro
R
Ohe
Department of Neurology, Hematology, Metabolism, Endocrinology and Diabetology, Yamagata University Faculty of Medicine, Yamagata City, Yamagata, Japan.
Takeo
T
Kato
Department of Diagnostic Pathology, Yamagata University Faculty of Medicine, Yamagata City, Yamagata, Japan.
Mitsunori
M
Yamakawa
Department of Ophthalmology and Visual Sciences, Yamagata University Faculty of Medicine, 2-2-2 Iidanishi, 9909585, Yamagata City, Yamagata, Japan.
Hidetoshi
H
Yamashita
D016632:Apolipoprotein A-I / Q000097:blood / Q000172:deficiency*; D024142:Collagen Type VI / Q000378:metabolism*; D003315:Cornea / Q000378:metabolism / Q000473:pathology*; D003318:Corneal Opacity / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D050171:Dyslipidemias / Q000150:complications* / Q000175:diagnosis / Q000378:metabolism; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D018613:Microscopy, Confocal; D008875:Middle Aged
D016632:Apolipoprotein A-I; D024142:Collagen Type VI
Apolipoprotein a-I deficiency; Case report; Collagen VI; Confocal microscopy; Corneal opacity; Immunohistochemistry