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A case of young-onset kumquat-like type of gelatinous drop-like corneal dystrophy diagnosed by gene analysis Yasutsugu Ida 1 , Tomoko Haruki 1 , Dai Miyazaki 1 , Yoshitsugu Inoue 1 , Eiji Nanba 2 , Nahoko Nakagawa 3 1Div of Ophthalmol and Vis Sci, Fac of Med, Tottori Univ 2Res Cent for Biosci and Technol, Tottori Univ 3Cent for Promoting Next-Generation Highly Adv Med, Tottori Univ Hosp pp.671-676
Published Date 2015/5/15
DOI https://doi.org/10.11477/mf.1410211330
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Abstract. Purpose:To report a case of young-onset kumquat-like type of gelatinous drop-like corneal dystrophy. Case:A 38-year-old female presented with severe ocular pain in both eyes as the chief complaint. She had impaired visual acuity and pain in both eyes at the age of 10 years, followed by detection of elevated lesion in the cornea. She had received penetrating keratoplasty at the age of 14 years. Her parents were cousins. Findings:Corrected visual acuity was hand motion in either eye. Intraocular pressure was 47 mmHg right and 37 mmHg left. Both eyes showed elevated yellow corneal lesion with neovascularization. The clinical findings were compatible with the diagnosis of kumquat-like type of gelatinous drop-like corneal dystrophy. Gene analysis showed c.632delA mutation in TACSTD2. Both eyes received keratectomy followed by soft contact lens wear. Visual acuity improved to 0.2 right and 0.1 left. Conclusion:There has been no report of c.632delA mutation in TACSTD2 associated with kumquat-like type of gelatinous drop-like corneal dystrophy. Other unidentified genetic or environmental factor may be involved as the cause of young onset of keratopathy.


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電子版ISSN 1882-1308 印刷版ISSN 0370-5579 医学書院

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