title: [From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].
abstract: Congenital glaucoma, a true hydrocephalus of the eye, is defined by ocular hypertension resulting in buphthalmos in children up to three years old, the elasticity of the eye wall allowing its expansion. Juvenile glaucoma in teenagers and chronic glaucoma in adults do not alter the external aspect of the eye, as the eyeball has lost its elasticity. However, chronic ocular hypertension always causes ischemic excavation of the optic nerve head, leading to insidious amputation of the visual field and, potentially, blindness. Like most ophthalmological disorders, the different types of glaucoma have been shown to be genetically determined, and alterations in several genes have been identified. These altered genes can be expressed more or less early in life, suggesting a role of modifier genes. The role of CYP1B1 alterations in classic primary congenital glaucoma is well known, as is the role of PITX2, FOXC1, PAX6 and LOXC1 alterations in secondary congenital glaucoma due to iridogoniodysgenesis, and of MYOC alterations in the genesis of chronic glaucoma in adulthood. An outbred family carrying CYP1B1 mutations in the compound heterozygous state includes two sibs with primary congenital glaucoma and two others who developed chronic glaucoma in adulthood.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Dufier
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Rozet
authors.forename: Josseline
authors.initials: J
authors.lastname: Kaplan
authors.forename: Olivier
authors.initials: O
authors.lastname: Roche
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005901:Glaucoma / Q000151:congenital* / Q000453:epidemiology / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000209:etiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn