Familial juvenile glaucoma with underlying homozygous p.G61E CYP1B1 mutations

Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma

“…A homozygous p.G61E missense mutation of CYP1B1 was also reported in the familial juvenile glaucoma. 18 The above studies demonstrate that CYP1B1 mutations potentially threaten JOAG and might also modify the glaucoma phenotype in patients who do not carry a MYOC mutation. Our previous study found that mutations of MYOC and OPTN are responsible for B12.5% of JOAG in the Taiwan population.…”

Homozygous p.G61E mutation in a consanguineous Pakistani family with co-existence of juvenile-onset open angle glaucoma and primary congenital glaucoma

“…In heterozygous condition, p.G61E is reported with a mild phenotype in PCG and JOAG patients of different populations (Badeeb et al, 2014;Khan et al, 2011;López-Garrido et al, 2006;Melki et al, 2004;Panicker et al, 2004). The unaffected individual III:3 in family HPK1 who was heterozygous for p.G61E mutation had no detectable phenotype.…”

“…The clinical features of juvenile onset open angle glaucoma are the same as that of the adult-onset POAG, which include a gonioscopically open angle, reduced outflow facility, cupping of the optic disc and high intraocular pressure in most cases (López-Garrido et al, 2006). Age of onset of JOAG is 3 to 40 years and has an autosomal dominant inheritance pattern, but in recent studies a few cases of autosomal recessive inheritance were also reported in Saudi Arabia and India (Acharya et al, 2006;Khan et al, 2011). Adult-onset POAG occurs after the age of 40 years and exhibits a complex inheritance pattern due to the involvement of multiple genetic and environmental factors (Vincent et al, 2002).…”

CYP1B1Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia

“…3,4,6 It seems that the co-existence of MYOC and CYP1B1 mutations detected by Vincent and colleagues in Canadians is limited to that population. 7 Clearly, more work on this is needed in various populations to establish the link between MYOC mutation and the occurrence of JOAG.…”

“…Recently, a Saudi consanguineous family with primary juvenile glaucoma with a homozygous p.G61E CYP1B1 mutation was reported. 4 The family had no apparent mutation in the MYOC gene. This family was unlike other previously reported Saudi families in that the recessive p.G61E mutations segregated only with familial primary juvenile glaucoma (i.e.…”