Microspherophakia

Microspherophakia
Schematic diagram of the human eye(normal)
SpecialtyOphthalmology

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. 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. It is a result of a homozygous mutation to the LTBP2 gene.

See also

References

  1. ^ "Spherophakia". University of Arizona. Retrieved 2012-08-20.
  2. ^ Nirankari, M.S.; Maudgal, M.C. (1959). "Microphakia". British Journal of Ophthalmology. 43 (5): 314–316. doi:10.1136/bjo.43.5.314. PMC 509814. PMID 13651569.
  3. ^ Arun Kumar; Maheswara R. Duvvari; Venkatesh C. Prabhakaran; Jyoti S. Shetty; Gowri J. Murthy; Susan H. Blanton (October 2010). "A homozygous mutation in LTBP2 causes isolated microspherophakia". Human Genetics. 128 (4): 365–371. doi:10.1007/s00439-010-0858-8. PMID 20617341. S2CID 24209247.

Further reading

Microspherophakia at Online Mendelian Inheritance in Man


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