Microspherophakia
| Microspherophakia | |
|---|---|
| Classification and external resources | |
| Specialty | medical genetics |
| ICD-10 | Q12.4 |
| ICD-9-CM | 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. doi:10.1136/bjo.43.5.314.
- ↑ 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
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