WAGRO syndrome: a rare genetic condition associated with aniridia and additional
            ophthalmologic abnormalities

Ferreira, Maria Angélica Tosi; Júnior, Ivan Gonçalves de Almeida; Kuratani, Daniel Kanami; Rosa, Rafael Fabiano Machado; Gonzales, João Francisco de Oliveira; Telles, Lisieux Elaine de Borba; Ferrão, Ygor Arzeno; Zen, Paulo Ricardo Gazzola

doi:10.5935/0004-2749.20190065

Cited by 6 publications

(4 citation statements)

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“…Obesity and type 2 diabetes were the most common systemic associations observed in our cohort. Obesity has been reported in both syndromic and nonsyndromic aniridia ( 7 , 28 , 36 , 59 ); 23.3% of our patients were affected, but this is below the estimated UK’s general population prevalence of 27.8% ( 60 ). Type 2 diabetes, however, was observed in 12.8% of our cohort, which is higher than a previously reported 7% prevalence in a survey of patients with aniridia ( 28 ) and is twice the prevalence of diabetes in the UK general population (4.5%–6%) ( 61 , 62 ).…”

Section: Discussioncontrasting

confidence: 67%

“…Systemically, isolated PAX6 mutations have been associated with reports of type 1 and 2 diabetes (25,26,28), obesity (28), brain anatomical and neurodevelopmental anomalies, neurobehavioral, and autism spectrum disorder (29)(30)(31)(32)(33)(34)(35). Furthermore, aniridia is also observed in syndromes with systemic involvement which includes WAGR syndrome (Wilms tumour, aniridia, genitourinary anomalies and mental retardation, OMIM 194072), and the closely related WAGRO syndrome (Wilms tumour, aniridia, genitourinary anomalies, mental retardation, and obesity, OMIM 612469) (36). Both conditions involve deletions of the PAX6 gene, as well as WT1 (WAGR), or WT1 and BDNF (WAGRO) (18).…”

Section: Introductionmentioning

confidence: 99%

“…Furthermore, aniridia is also observed in syndromes with systemic involvement, which include WAGR syndrome (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation, OMIM 194072) and the closely related WAGRO syndrome (Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity, OMIM 612469; ref. 36 ). Both conditions involve deletions of the PAX6 gene as well as WT1 (WAGR) or WT1 and BDNF (WAGRO; ref.…”

Section: Introductionmentioning

confidence: 99%

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Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Kit¹,

Cunha²,

Hagag³

et al. 2021

JCI Insight

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Aniridia is most commonly caused by haploinsufficiency of the PAX6 gene, characterised by variable iris and foveal hypoplasia, nystagmus, cataracts, glaucoma and aniridia related keratopathy (ARK). Genotype-phenotype correlations have previously been described, however detailed longitudinal studies of aniridia are less commonly reported. We identified eighty-six patients from sixty-two unrelated families with molecularly confirmed heterozygous PAX6 variants from a United Kingdom (UK)-based single-centre ocular genetics service. They were categorised into mutation groups and retrospective review of baseline to most recent clinical characteristics (ocular and systemic) were recorded. One hundred and seventy-two eyes were evaluated, with a mean follow up period of 16.3 ± 12.7 years. Nystagmus was recorded in 87.2%, and foveal hypoplasia in 75%. Cataracts were diagnosed in 70.3%, glaucoma in 20.6% and ARK in 68.6% of eyes. Prevalence, age of diagnosis and surgical intervention varied amongst mutation groups. Overall, the missense mutation sub-group had the mildest phenotype, and surgically naïve eyes maintained better visual acuity. Systemic evaluation identified type 2 diabetes in 12.8%, which is twice the UK prevalence. This is the largest longitudinal study of aniridia in the United Kingdom, providing insights into prognostic indicators for patients and guiding clinical management of both ocular and systemic features.

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Section: Discussioncontrasting

confidence: 67%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Kit¹,

Cunha²,

Hagag³

et al. 2021

JCI Insight

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“…Patients with WAGR may have undiagnosed epilepsy or unrecognized seizures, as a patient affected by WAGR with obesity was described with signs of rolandic epilepsy of childhood demonstrated by electroencephalogram, despite the absence of seizures ( 59 ). Further research is needed to explore potential mechanisms leading to seizures in patients with WAGR syndrome, as a variety involving the common WAGR genes and SLC1A2 and ELP4 genes have been suggested ( 24 , 60 , 61 ).…”

Section: Discussionmentioning

confidence: 99%

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

Duffy

Trout²,

Gunckle³

et al. 2021

Front. Pediatr.

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WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. In the present study, we collected information from 91 individuals enrolled in the registry to explore self-reported health issues in this patient population. A wide variety of common clinical issues not classically associated with the disorder were found, prompting the redefinition from WAGR syndrome to WAGR spectrum disorder to incorporate the phenotypic variations that occur. A comprehensive care management approach is needed to address the wide range of clinical issues and we propose a care model for patients affected by WAGR spectrum disorder. Further research is needed to solidify the breath of the phenotype and confirm the observations in this study to advance individualized patient care in this population.

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Syndromic Wilms’ Tumor

Peters¹,

Samujh²

2022

Wilms’ Tumor

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WAGRO syndrome: a rare genetic condition associated with aniridia and additional ophthalmologic abnormalities

Cited by 6 publications

References 0 publications

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Longitudinal genotype-phenotype analysis in 86 patients with PAX6-related aniridia

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

Syndromic Wilms’ Tumor

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