Genotype and Phenotype Correlations in Congenital Glaucoma: CYP1B1 Mutations, Goniodysgenesis, and Clinical Characteristics

Hollander, David; Sarfarazi, Mansoor; Stoilov, Ivaylo; Wood, Irmgard; Fredrick, Douglas R.; Alvarado, Jorge A.

doi:10.1016/j.ajo.2006.07.054

Cited by 60 publications

(50 citation statements)

References 27 publications

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“…Histopathologic findings of Peters anomaly reported previously with systemic disease (Peters plus syndrome) have described an open angle covered with dense iris processes over the trabecular meshwork and suggested that the mechanism of glaucoma might be developmental. [6][7][8] The pathologic findings of the angle structures in this case were consistent with that reported in severe developmental glaucoma, illustrating that angle malformation may be the cause of glaucoma in some of these patients. The absence of Schlemm's canal, not reported previously in association with Peters anomaly, may suggest that angle procedures, such as goniotomy or trabeculotomy, may not be effective in treating glaucoma in these patients.…”

Section: Discussionsupporting

confidence: 84%

Atypical Peters plus syndrome with new associations

Hanna¹,

Eickholt²,

Agamanolis³

et al. 2010

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionsupporting

confidence: 84%

Atypical Peters plus syndrome with new associations

Hanna¹,

Eickholt²,

Agamanolis³

et al. 2010

Journal of American Association for Pediatric Ophthalmology and

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“…A major advance has been the concept of incising the whole angle (circumferential trabeculotomy) with either suture [11][12][13][14] or microcatheter. 15,16 With surgical destruction of the Schlemm's canal and potential severe angle maldevelopment involving Schlemm's canal, 19,[25][26][27] the microcatheter could not pass 360°. Therefore, it would be encountered in eyes with previous angle surgeries frequently and even in eyes without previous angle surgeries.…”

Section: Discussionmentioning

confidence: 99%

Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma

Shi

Wang

Yin

et al. 2016

Eye

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Purpose To report surgical outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries, and compare those with no previous angle surgery, in primary congenital glaucoma (PCG). Methods The early postoperative (12 months) results of 42 eyes of 36 patients who underwent microcatheter-assisted trabeculotomy by single surgeon for PCG were retrospectively analyzed. Group 1, 20 eyes of 16 patients, had no previous angle surgery. Group 2, 22 eyes of 20 patients, had one or two previous failed angle surgeries. Success was defined as an intraocular pressure (IOP) o21 mm Hg with at least a 30% reduction from preoperative IOP with (qualified success) or without (complete success) the use of antiglaucoma medication. Results Mean IOP decreased from 31.5 ± 7.2 mm Hg on 3 (median, range: 1-5) medications in Group 1 and 34.6 ± 7.3 mm Hg on 3 (median, range: 1-4) medications in Group 2 preoperatively to 15.6 ± 3.1 mm Hg on 0 (median, range: 0-4) medications in Group 1 and 16.0 ± 4.6 mm Hg on 0 (median, range: 0-2) medications in Group 2 postoperatively at 12 months (both Po0.001), respectively. The mean percentage of IOP reduction from preoperative to last postoperative visit was 46.0 ± 20.1% in Group 1 and 45.5 ± 25.0% in Group 2, P = 0.947. Qualified and complete successes were comparable between Group 1 and Group 2 (qualified success: 90.0% vs 77.3%, P = 0.294; complete success: 78.9% vs 77.3%, P = 0.853). Complications were minimal. Conclusions Microcatheter-assisted trabeculotomy achieved significant pressurelowering effects with a reduction in medication use in PCG, and it represents a reasonable choice of initial and repeat surgical treatment for PCG.

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“…It has been hypothesized that mutations of CYP1B1 cause developmental abnormality in the structure and function of the anterior ocular segment. 25 However, NTG patients have statistically normal IOP with no abnormality in the structure of anterior ocular segment, suggesting that CYP1B1 is a potential disease susceptibility gene of PCG, POAG, and JOAG, but not NTG. On the other hand, we found a weak association between two adjacent markers, D2S0416i and D2S0425i, and NTG, although this link did not reach statistical signifi cance when corrected.…”

Section: Discussionmentioning

confidence: 99%

Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis

Kamio

Meguro

et al. 2009

OPTH

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Purpose: To investigate whether the GLC3A locus harboring the CYP1B1 gene is associated with normal tension glaucoma (NTG) in Japanese patients. Materials and Methods: One hundred forty-two Japanese patients with NTG and 101 Japanese healthy controls were recruited. Patients exhibiting a comparatively early onset were selected as this suggests that genetic factors may show stronger involvement. Genotyping and assessment of allelic diversity was performed on 13 highly polymorphic microsatellite markers in and around the GLC3A locus. Results: There were decreased frequencies of the 444 allele of D2S0416i and the 258 allele of D2S0425i in cases compared to controls (P = 0.022 and P = 0.034, respectively). However, this statistical signifi cance disappeared when corrected (Pc Ͼ 0.05). We did not fi nd any signifi cant association between the remaining 11 microsatellite markers, including D2S177, which may be associated with CYP1B1, and NTG (P Ͼ 0.05). Conclusions: Our study showed no association between the GLCA3 locus and NTG, suggesting that the CYP1B1 gene, which is reportedly involved in a range of glaucoma phenotypes, may not be an associated factor in the pathogenesis of NTG.

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Genotype and Phenotype Correlations in Congenital Glaucoma: CYP1B1 Mutations, Goniodysgenesis, and Clinical Characteristics

Cited by 60 publications

References 27 publications

Atypical Peters plus syndrome with new associations

Atypical Peters plus syndrome with new associations

Outcomes of microcatheter-assisted trabeculotomy following failed angle surgeries in primary congenital glaucoma

Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis

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