Iris Sector Heterochromia as a Marker for Neural Crest Disease

Brazel, Sheila M.; Sullivan, Tim; Thorner, Paul; Clarke, Michael; Hunter, W. H.; Morin, Julie

doi:10.1001/archopht.1992.01080140089033

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…Histopathologic specimens have shown marked reduction in iris stromal pigmentation and reduced stromal cells in the areas of hypoplasia supporting a hypothesis of a defect in neural crest development. 2 In summary, iris hypoplasia and APSDs are uncommon entities. The distinctive iris appearance in our patients most likely represents extreme iris stromal hypoplasia with apparent absence of the sphincter and dilator muscles.…”

Section: Discussionmentioning

confidence: 99%

“…Hirschsprung disease, Waardenburg syndrome, neuroblastoma, and esophageal motility disorder have all been reported in patients with iris or pupillary defects. [1][2][3]18 In most cases the iris is hypoplastic and presents as stromal thinning and heterochromia. Histopathologic specimens have shown marked reduction in iris stromal pigmentation and reduced stromal cells in the areas of hypoplasia supporting a hypothesis of a defect in neural crest development.…”

Section: Discussionmentioning

confidence: 99%

“…[1][2][3] Aorticopulmonary septal defect (APSD) is an uncommon cardiac anomaly in which there is an abnormal communication between the aorta and pulmonary trunk due to failure of normal septation. This congenital heart defect may lead to congestive heart failure and failure to thrive in newborns.…”

mentioning

confidence: 99%

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Iris Hypoplasia and Aorticopulmonary Septal Defect: A Neurocristopathy

Bergstrom

Saunders

Hutchinson

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Iris Hypoplasia and Aorticopulmonary Septal Defect: A Neurocristopathy

Bergstrom

Saunders

Hutchinson

et al. 2005

Journal of American Association for Pediatric Ophthalmology and

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“…The pattern of malformations and minor anomalies observed in patients with Myhre syndrome including ToF, Hirschsprung disease, schwannoma, nerve sheath tumors, and iris abnormalities suggests that Myhre syndrome may also be viewed as a neurocristopathy (Brazel, 1992; Lewis et al, 2017; Mort et al, 2015; Ritter & Martin, 2019). At least at present, other manifestations of Myhre syndrome, such as short stature and progressive fibrotic changes, might be linked to the specific role of SMAD4 in organization and proliferation of extracellular matrix (Whitaker et al, 2017).…”

Section: Discussionmentioning

confidence: 99%

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Cappuccio

Brunetti‐Pierri

Clift³

et al. 2022

American J of Med Genetics Pt A

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Tetralogy of Fallot (ToF) can be associated with a wide range of extracardiac anomalies, with an underlying etiology identified in approximately 10% of cases. Individuals affected with Myhre syndrome due to recurrent SMAD4 mutations frequently have cardiovascular anomalies, including congenital heart defects. In addition to two patients in the literature with ToF, we describe five additional individuals with Myhre syndrome and classic ToF, ToF with pulmonary atresia and multiple aorto‐pulmonary collaterals, and ToF with absent pulmonary valve. Aorta hypoplasia was documented in one patient and suspected in another two. In half of these individuals, postoperative cardiac dysfunction was thought to be more severe than classic postoperative ToF repair. There may be an increase in right ventricular pressure, and right ventricular dysfunction due to free pulmonic regurgitation. Noncardiac developmental abnormalities in our series and the literature, including corectopia, heterochromia iridis, and congenital miosis suggest an underlying defect of neural crest cell migration in Myhre syndrome. We advise clinicians that Myhre syndrome should be considered in the genetic evaluation of a child with ToF, short stature, unusual facial features, and developmental delay, as these children may be at risk for increased postoperative morbidity. Additional research is needed to investigate the hypothesis that postoperative hemodynamics in these patients may be consistent with restrictive myocardial physiology.

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