Early-onset glaucoma in Axenfeld–Rieger anomaly: long-term surgical results and visual outcome

Mandal, Anil K.; Pehere, Niranjan K

doi:10.1038/eye.2016.66

Cited by 35 publications

(42 citation statements)

References 20 publications

(43 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…5 , 18 Standard medications and surgical procedures often have a lower success rate than in non-ARS glaucoma patients. 29 In our study, 48% of individuals with glaucoma had advanced visual field loss and all had incisional surgery. This highlights the importance of early molecular diagnosis for effective monitoring and treatment options.…”

Section: Discussionmentioning

confidence: 53%

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

et al. 2017

View full text Add to dashboard Cite

Variation in FOXC1 and PITX2 is associated with Axenfeld-Rieger syndrome, characterised by structural defects of the anterior chamber of the eye and a range of systemic features. Approximately half of all affected individuals will develop glaucoma, but the age at diagnosis and the phenotypic spectrum have not been well defined. As phenotypic heterogeneity is common, we aimed to delineate the age-related penetrance and the full phenotypic spectrum of glaucoma in FOXC1 or PITX2 carriers recruited through a national disease registry. All coding exons of FOXC1 and PITX2 were directly sequenced and multiplex ligation-dependent probe amplification was performed to detect copy number variation. The cohort included 53 individuals from 24 families with disease-associated FOXC1 or PITX2 variants, including one individual diagnosed with primary congenital glaucoma and five with primary open-angle glaucoma. The overall prevalence of glaucoma was 58.5% and was similar for both genes (53.3% for FOXC1 vs 60.9% for PITX2, P=0.59), however, the median age at glaucoma diagnosis was significantly lower in FOXC1 (6.0±13.0 years) compared with PITX2 carriers (18.0±10.6 years, P=0.04). The penetrance at 10 years old was significantly lower in PITX2 than FOXC1 carriers (13.0% vs 42.9%, P=0.03) but became comparable at 25 years old (71.4% vs 57.7%, P=0.38). These findings have important implications for the genetic counselling of families affected by Axenfeld-Rieger syndrome, and also suggest that FOXC1 and PITX2 contribute to the genetic architecture of primary glaucoma subtypes.

show abstract

Section: Discussionmentioning

confidence: 53%

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Since around 50% of ARS patients will develop glaucoma, conventional glaucoma surgeries like trabeculectomy and trabeculotomy are still required. [ 5 , 12 ] With a 20-year follow-up, Mandal and Pehere [ 38 ] confirmed the safety and effectiveness of the combination of trabeculotomy and trabeculectomy for ARS children with early-onset of glaucoma. Mitomycin C (MMC) or the newly developed Ologen Collagen matrix reducing subconjunctival fibrosis may effectively lower IOP in long-term.…”

Section: Discussionmentioning

confidence: 92%

The rare Axenfeld–Rieger syndrome with systemic anomalies

Song

2017

Medicine

View full text Add to dashboard Cite

Rationale:Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies.Patient concerns:A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month.Diagnoses:The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed.Interventions:A pars plana vitrectomy was performed to manage the retinal detachment.Outcomes:Her best-corrected visual acuity was slightly improved after surgery.Lessons:ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis.

show abstract

“…Goniotomy and trabeculectomy (TBC) require the highest recommendations. Regarding the use of antimetabolites, mitomycin-C combined with TBC has shown better long-term results, making it the technique of choice [ 8 , 10 ].…”

Section: Discussionmentioning

confidence: 99%

Ocular hypertension in Axenfeld-Rieger Syndrome

Espinosa-Barberi¹,

González²,

Antón³

2020

rjo

View full text Add to dashboard Cite

Purpose: to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Method: Observational case report of a 43-year-old woman with background of OHT. The data was collected originally with a standardized electronic medical record. A complete ophthalmologic examination was performed. Results: In the biomicroscopy, a posterior embryotoxon, iris atrophy with absence of crypts and irregularity of pigmentation, and discoria in OU were observed. Gonioscopy revealed an open angle with a prominent and anterior displaced Schwalbe line. Ocular fundus (OF) demonstrated small and oblique papillae, with normal neurorretinal ring. Functional tests were normal. The patient did not present systemic pathologies, so the diagnosis of Rieger anomaly was made. The IOP control was achieved with aqueous humor suppressants. Conclusions: Glaucoma is the main cause of visual morbidity in patients with ARS, therefore a complete periodic ophthalmological exam is a priority. Abbreviations :ARS = Axenfeld-Rieger Syndrome, RP = retinitis pigmentosa, IOP = Intraocular Pressure, BCVA = Best Corrected Visual Acuity, OR = right eye, OS = left eye, OU = both eyes, OF = ocular fundus, OCT = optical coherence tomography, VF = visual field, TBC = trabeculectomy

show abstract

Early-onset glaucoma in Axenfeld–Rieger anomaly: long-term surgical results and visual outcome

Cited by 35 publications

References 20 publications

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

The rare Axenfeld–Rieger syndrome with systemic anomalies

Ocular hypertension in Axenfeld-Rieger Syndrome

Contact Info

Product

Resources

About