Microspherophakia
| Microspherophakia | |
|---|---|
| Specialty | Medical genetics  |
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. doi:10.1136/bjo.43.5.314.
- ^ "A homozygous mutation in LTBP2 causes isolated microspherophakia". Human Genetics. 128 (4): 365–371. October 2010. doi:10.1007/s00439-010-0858-8.
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External sources
Microspherophakia at Online Mendelian Inheritance in Man
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