Primary congenital glaucoma
Definition:
Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features include elevated IOP, corneal edema, enlargement of the globe (buphthalmos), corneal enlargement, rupture of Descemet's membrane, and optic nerve damage. Two genes have been reported to cause PCG, CYP1B1 and LTBP2. Both genes cause a recessive form of this disease.
References:
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[1]. Tarek Sharaawy, et al. Surgical management of glaucoma: evolving paradigms. Indian J Ophthalmol. 2011 Jan;59 Suppl(Suppl1):S123-30. [Content Brief]
[2]. Tomokazu Souma, et al. Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity. J Clin Invest. 2016 Jul 1;126(7):2575-87. [Content Brief]
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