Microcoria is a
congenital
A birth defect, also known as a congenital disorder, is an abnormal condition that is present at birth regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can ...
disease in which the
pupil
The pupil is a black hole located in the center of the iris of the eye that allows light to strike the retina.Cassin, B. and Solomon, S. (1990) ''Dictionary of Eye Terminology''. Gainesville, Florida: Triad Publishing Company. It appears black ...
s of the subject are narrower than 2 mm in diameter. Microcoria is associated with juvenile-onset
glaucoma
Glaucoma is a group of eye diseases that result in damage to the optic nerve (or retina) and cause vision loss. The most common type is open-angle (wide angle, chronic simple) glaucoma, in which the drainage angle for fluid within the eye rem ...
. It is also associated with
Pierson syndrome Pierson or Piersons may refer to:
Places
*Pierson, Florida
*Pierson, Iowa
*Pierson, Manitoba
*Pierson, Michigan
*Pierson College of Yale University
*Pierson Creek, a stream in Iowa
*Piersons Lake, a lake in Minnesota
Other uses
*Pierson (surna ...
chararacterized by microcoria and congenital
nephrotic syndrome
Nephrotic syndrome is a collection of symptoms due to kidney damage. This includes protein in the urine, low blood albumin levels, high blood lipids, and significant swelling. Other symptoms may include weight gain, feeling tired, and foamy ...
. The defect is in the Laminin beta 2 gene on chromosome 3p21 which encodes a protein essential to the glomerular basement membrane.
[Zenker et al., 2004. Zenker M., Aigner T., Wendler O., et al: Human laminin beta 2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet 2004; 13:2625-2632]
It is also part of the known manifestations of a born infant to a mother suffering from uncontrolled hyperglycemia. Other symptoms include transposition of great vessels, respiratory distress secondary to surfactant defect, sacral agensis, jitteriness, irritability, and lethargy due to rebound fetal hypoglycemia. Congenital microcoria is an autosomal dominant trait. However, it can also occur sporadically.
See also
*
References
Eye diseases
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