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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/06/02 10:48:46」(JST)
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Microspherophakia |
Classification and external resources |
ICD-10 |
Q12.4 |
ICD-9 |
743.36 |
OMIM |
251750 |
Microspherophakia is a rare congenital autosomal recessive condition where the lens of the eye is smaller than normal and spherically shaped. This condition may be associated with a number of disorders including Peter's anomaly, Marfan syndrome, and Weill–Marchesani syndrome.[1] The spherical shape is caused by an underdeveloped zonule of Zinn, which doesn't exert enough force on the lens to make it form the usual oval shape.[2] It is a result of a homozygous mutation to the LTBP2 gene.[3]
See also
References
- ^ "Spherophakia". University of Arizona. Retrieved 2012-08-20.
- ^ Nirankari, M.S.; Maudgal, M.C. (1959). "Microphakia". British Journal of Ophthalmology (43): 314–316.
- ^ Kumar et al. (October 2010). "A homozygous mutation in LTBP2 causes isolated microspherophakia". Human Genetics 128 (4): 365–371. doi:10.1007/s00439-010-0858-8.
External sources
Microspherophakia at Online Mendelian Inheritance in Man
UpToDate Contents
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English Journal
- Extended-depth spectral-domain optical coherence tomography imaging of the crystalline lens in Weill-Marchesani-like syndrome.
- Cabot F1, Ruggeri M1, Saheb H1, Parel JM1, Parrish RK 2nd1.
- JCRS online case reports.JCRS Online Case Rep.2014 Oct;2(4):92-95.
- A 26-year-old woman presented with signs and symptoms of acute angle-closure glaucoma (ACG) in her left eye. Extended-depth spectral-domain optical coherence tomography (SD-OCT) was performed to biometrically assess the anterior chamber depth and crystalline lens conformation. Extended-depth SD-OCT
- PMID 25938025
- Ocular genetic disease in the Middle East.
- Khan AO1.
- Current opinion in ophthalmology.Curr Opin Ophthalmol.2013 Sep;24(5):369-78. doi: 10.1097/ICU.0b013e3283638374.
- PURPOSE OF REVIEW: Centered on the Arabian Peninsula, the Middle East encompasses Northern Africa to Western Asia. Primarily Arab and historically tribal, populations from this region often practice customary intrafamilial marriage (consanguinity), intratribal marriage (endogamy), and a preference f
- PMID 23846189
- Isolated spherophakia and glaucoma.
- Pikkel J1, Irena E.
- Case reports in medicine.Case Rep Med.2013;2013:516490. doi: 10.1155/2013/516490. Epub 2013 Sep 11.
- We report a case of spherophakia that caused glaucoma and describe the characteristics and the ultrasound biomicroscopy findings as well as the mechanism and management of glaucoma in spherophakia. We suggest considering lens extraction to manage glaucoma in spherophakia and discuss the surgical con
- PMID 24106503
Japanese Journal
- Clinical Evaluation of a Three-Dimensional Ultrasonography System in the Ophthalmic Field
- Kumagami Takeshi
- Yonago Acta medica 48(2), 57-62, 2005-06
- … In a patient with lens luxation resulting from Marfan's syndrome, the shape of luxated spherophakia was detected stereographically. …
- NAID 110001240422
- 超音波バイオマイクロスコープによる先天異常眼の白内障術前検査 : ぶどう膜欠損を伴う小角膜症例の検討
- 猪原 博之,小田 博,切通 彰,渡辺 仁,下村 嘉一
- 日本眼科紀要 = Folia ophthalmologica Japonica 46(10), 1026-1031, 1995-10-28
- NAID 10009719964
Related Links
- spherophakia [sfe″ro-fa´ke-ah] a developmental defect in which a smaller, more spherical optic lens than normal is formed, with partial or complete aplasia of the zonule. sphe·ro·pha·ki·a (sfē'rō-fā'kē-ă), A congenital bilateral aberration ...
- spherophakia spher·o·pha·ki·a (sfēr'ə-fā'kē-ə, sfěr'ə-) n. A congenital bilateral anomaly in which the lenses of the eye are small, spherical, and prone to subluxation. Also called microphakia.
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