Microspherophakia
Sign in to saveAlso known as MSPKA, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA; MSPKA, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA
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.
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Vinony's link graph records 2 inbound references to Microspherophakia, and connects out to digital object identifier, International Statistical Classification of Diseases and Related Health Problems and PubMed.
Vinony files it under Autosomal recessive disorders, Congenital disorders of eyes and Disorders of lens.
Vinony links it to 6 Wikipedia language editions.
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- health specialty
- medical genetics
- exact match
- www.orpha.net/ORDO/Orphanet_238763
- genetic association
- LTBP2
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Encyclopedic overview
4 sectionsContents
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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== Ectopia lentis
Excerpted from Wikipedia’s “Microspherophakia” article, available under the CC BY-SA 4.0 licence.