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

Cc, Su; Yf, Liu; Sy, Li; Yang, Jiann‐Jou; Yen, Yung-Chang

doi:10.1038/eye.2012.159

Cited by 25 publications

(25 citation statements)

References 28 publications

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“…Heterozygous CYP1B1 mutations have been previously found both in POAG and PCG. For example, heterozygous mutations Arg390His and Gln144His, which were also detected in this study, were previously reported in PCG patients from China21 and POAG patients from France10 and Taiwan,23 and POAG patients from Spain,12 respectively. In addition, the four novel detected mutations occurred at highly conserved positions by comparative amino acid sequence alignment of their proteins (figure 2) and they were predicted to be damaging by the SIFT (table 3).…”

Section: Discussionsupporting

confidence: 82%

“…Patel et al 16 identified three mutations of CYP1B1 in six (12.2%) patients and four (2%) control subject among 49 unrelated New Zealander POAG patients and 200 control subjects. Additionally, a study in 61 unrelated Taiwanese probands with JOAG and 100 control subjects revealed the prevalence of CYP1B1 mutations was 4.92% (3/61) 23. Finally, a study comprising 14 unrelated JOAG patients (in both the familial and sporadic form) and 190 control subjects in Saudi Arabia showed a high CYP1B1 mutation rate (85.7%) in patients with JOAG 24.…”

Section: Discussionmentioning

confidence: 95%

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Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Gong

et al. 2014

Br J Ophthalmol

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Section: Discussionsupporting

confidence: 82%

Section: Discussionmentioning

confidence: 95%

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Gong

et al. 2014

Br J Ophthalmol

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“…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.…”

mentioning

confidence: 99%

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

Abu-Amero

Morales

Aljasim

et al. 2013

Ophthalmic Genetics

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“…Although it is not well understood how mutations in the MYOC gene cause glaucoma, they appear to do so by affecting trabecular outflow. 56 JOAG differs from primary open-angle glaucoma in its age of onset and magnitude of IOP elevation. JOAG is typically asymptomatic and is discovered incidentally on routine eye examination or screening due to a family history.…”

Section: -43mentioning

confidence: 99%

Pediatric glaucoma: current perspectives

Marchini¹,

Toscani²,

Chemello³

2014

PHMT

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"Childhood glaucoma" is a heterogeneous group of severe pediatric conditions often associated with significant visual loss and characterized by elevated intraocular pressure (IOP) and optic-disk cupping. Successful IOP control is crucial but challenging and most often achieved surgically, with medical therapy playing a supportive role. There are many classifications of childhood glaucoma, but they can simply be divided into primary, in which a developmental abnormality of the anterior chamber angle only exists, and secondary, in which aqueous outflow is reduced due to independent mechanisms that secondarily impair the function of the filtration angle. The worldwide prevalence of childhood blindness ranges from 0.03% in high-income countries to 0.12% in undeveloped countries. The majority of cases do not have an identified genetic mutation and, where the mutation is known, the genes often account for only a small proportion of cases. Several pathogenetic mechanisms are known to contribute to the development of childhood glaucoma. Whatever the cause, it results in a reduced aqueous outflow at the level of the trabecular meshwork. Age of onset and magnitude of the elevated IOP largely determine the clinical manifestation the high variability of clinical manifestations. Glaucoma from any cause in a neonate and infant is characterized by the classic triad of epiphora, photophobia, and blepharospasm, and could be associated with eye enlargement (buphthalmos) and Haab striae. The eye examination, usually performed under general anesthesia, includes: tonometry, anterior-segment examination, gonioscopy, corneal diameter and axial length measurement, dilated fundoscopy with optic-nerve-head evaluation. Medical therapy, considering the high frequency of side effects, is generally used as temporizing IOP-lowering treatment before surgery or as adjuvant treatment postoperatively in case of partially successful procedures for refractory glaucomas. Surgery is the nodal point of the management of refractory childhood glaucoma, so it is crucial to opt for a forward-looking strategy to reach the target IOP and minimize the visual loss.

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

Cited by 25 publications

References 28 publications

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

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

Pediatric glaucoma: current perspectives

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