Microcoria

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Smallness of the pupil.

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Microcoria is a congenital disease in which the pupils of the subject are narrower than 2mm in diameter. Microcoria is associated with juvenile-onset glaucoma. It is also associated with Pierson syndrome chararacterized by microcoria and congenital nephrotic syndrome. The defect is in the Laminin beta 2 gene on chromosome 3p21 which encodes a protein essential to the glomerular basement membrane.[1]

It is also part of the known manifestations of a born infant to a mother suffering from uncontrolled hyperglycemia[citation needed]. Other symptoms include transposition of great vessels, respiratory distress secondary to surfactant defect, sacral agensis, jitteriness, irritability, and lethargy due to rebound fetal hypoglycemia.

See also

References

  1. ^ Zenker et al., 2004. Zenker M., Aigner T., Wendler O., et al: Human laminin beta 2 deficiency causes congenital nephrosis with mesangial sclerosis and distint eye abnormalities. Hum Mol Genet 2004; 13:2625-2632



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