Abstract
Mutations in the CYP1B1 gene are currently the main known genetic cause of primary congenital glaucoma (PCG), a leading cause of blindness in children. Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. Surgical pieces from trabeculectomy from patients with PCG (n = 5) and sclerocorneal rims (n = 3) from cadaver donors were processed for transmission electron microscopy. Patients were classified into three groups depending on goniodysgenesis severity, which was influenced by CYP1B1 enzymatic activity. The main histological changes observed in the outflow pathway of patients with PCG and mutations in CYP1B1 were: i) underdeveloped collector channels and the Schlemm’s canal; ii) abnormal insertion of the ciliary muscle; iii) death of the trabecular endothelial cells. Our findings could be useful in improving treatment strategy of PCG associated with CYP1B1 mutations.
Highlights
Primary congenital glaucoma (PCG) is a major cause of blindness in children
Five patients met the criteria to be included in the study; all of them had been diagnosed with PCG and were carriers of a CYP1B1 gene mutation
We have analyzed for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in congenital glaucoma
Summary
Primary congenital glaucoma (PCG) is a major cause of blindness in children. It is usually diagnosed before the age of 3 years (neonates or infants) and it is transmitted as an autosomalrecessive trait with incomplete penetrance [1, 2]. Clinical manifestation includes buphthalmos as a result of high intraocular pressure (IOP), edema and opacification of the cornea with rupture of Descemet’s membrane, photophobia, and excessive tearing, among other symptoms. PCG results from developmental defects of the trabecular meshwork (TM) (trabeculodysgenesis) which is responsible for increased aqueous outflow resistance, elevated IOP, and optic nerve damage [3].
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