Microspherophakia

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]

Microspherophakia
Schematic diagram of the human eye(normal)
SpecialtyOphthalmology

See also

References
  1. "Spherophakia". University of Arizona. Retrieved 2012-08-20.
  2. Nirankari, M.S.; Maudgal, M.C. (1959). "Microphakia" (PDF). British Journal of Ophthalmology. 43 (5): 314–316. doi:10.1136/bjo.43.5.314. PMC 509814. PMID 13651569.
  3. 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. PMID 20617341.CS1 maint: uses authors parameter (link)

Further reading

Microspherophakia at Online Mendelian Inheritance in Man

Classification



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