Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: a rare syndrome

Lindberg, Knut; Brunvand, L

doi:10.1111/j.1600-0420.2005.00496.x

Cited by 17 publications

(10 citation statements)

References 6 publications

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“…Iris sphincter agenesis has been associated with ciliary muscle aplasia with resultant loss of accommodation as well as combined absence of the dilator muscle [1–3]. Our case had loss of accommodation with intact dilators.…”

Section: Discussionmentioning

confidence: 71%

“…Our case had loss of accommodation with intact dilators. Conventionally, this condition has been described as part of a syndromic complex involving aneurysmal dilatation of a patent ductus arteriosus or cystic lung disease [1, 4–6]. Family history with the same condition occurring in siblings has also been reported [2, 4].…”

Section: Discussionmentioning

confidence: 99%

“…Congenital mydriasis, a rare congenital anomaly, has been described previously with loss of accommodation, ciliary muscle aplasia [1–3], dilator agenesis, as well with cardiovascular and pulmonary abnormalities like patent ductus arteriosus and cystic lung disease [2, 4–6]. We report a case in a young adult with total sphincter agenesis with lack of any systemic abnormality.…”

Section: Introductionmentioning

confidence: 91%

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Isolated Bilateral Congenital Iris Sphincter Agenesis

Rao

2011

Case Reports in Ophthalmological Medicine

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Purpose. We herein report a patient with bilateral congenital total iris sphincter agenesis with no other abnormality detected on systemic examination. Methods. A 24-year-old laborer presented to us for a routine checkup with complaint of photophobia and inability to work under sunlight. Examination revealed bilateral absence of sphincter and 6.5 mm pupil in both eyes in the undilated state. Results. Accommodation was poor in both eyes. Systemic examination was within normal limits. He was prescribed bifocal photochromic glasses for constant wear. Conclusions. Congenital sphincter agenesis can occur in an isolated form without systemic abnormalities which can be managed conservatively.

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Section: Discussionmentioning

confidence: 71%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 91%

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Isolated Bilateral Congenital Iris Sphincter Agenesis

Rao

2011

Case Reports in Ophthalmological Medicine

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“…4 In this context, congenital mydriasis may highlight smooth muscle dysfunction and prompt further investigation of subclinical vasculopathy. 7,8 Recently, genotype-phenotype correlations have begun to emerge for ACTA2 mutations. The p.Arg179His mutation has been associated with global smooth muscle dysfunction and diverse vasculopathies, including congenital mydriasis, hypotonic bladder, malrotation, gut hypoperistalsis, pulmonary hypertension, patent ductus arteriosus, and central nervous system anomalies.…”

Section: Discussionmentioning

confidence: 99%

Twins With Progressive Thoracic Aortic Aneurysm, Recurrent Dissection and ACTA2 Mutation

et al. 2014

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Thoracic aortic aneurysm (TAA) is a genetically mediated disease with variable age of onset. In the pediatric age range, nonsyndromic TAA frequently has a milder course than syndromic forms of TAA, such as Marfan syndrome or Loeys-Dietz syndrome. Herein, we describe 17-year-old identical twin brothers with severe progressive TAA due to a novel de novo ACTA2 mutation. Interestingly, both boys were diagnosed at age 11 with congenital mydriasis, a recently recognized manifestation of some ACTA2 mutations due to smooth muscle dysfunction. One of the brothers presented with acute-onset lower back pain that was identified as dissection of an abdominal aortic aneurysm. Imaging of the chest at this time showed severe fusiform TAA. Cardiac imaging in his twin showed similar TAA, but no abdominal aortic aneurysm. Both brothers underwent valve-sparing aortic root replacement, but have had progressive aortic disease with recurrent dissection requiring multiple surgeries. This case emphasizes the importance of identifying physical stigmata of smooth muscle dysfunction, such as mydriasis, as potential markers for associated aortopathy and vascular diseases.

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“…8,9 Cardiologists had been consulted to investigate the pathologies of our patient; however, no pathology was detected. Pathologic mechanism for congenital myriasis is not clear yet.…”

Section: Discussionmentioning

confidence: 99%

Congenital Mydriasis: Diagnostic Challenge in a Case with Accompanying Neurologic Symptoms

Atik¹,

Koç²,

Kaplan³

et al. 2014

Neuro-Ophthalmology

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A 34-year-old woman was hospitalised with acute onset nausea, vomiting, ataxia, nystagmus, blurred vision, and bilateral mydriasis. Toxicologic investigations and serologic tests for infectious aetiologies were negative. Demyelinating disease was suspected based on magnetic resonance imaging (MRI) findings but there were no lesions at the midbrain explaining bilateral mydriasis. Direct light, consensual light, and near responses for pupil were all negative. Biomicroscopic examination of the iris did not show any sphincter damage or tonic movements. Pupils didn't respond to pilocarpine (0.1% and 2%) and remained unresponsive during the follow-up period. Congenital mydriasis was diagnosed because old photographs revealed that pupils were dilated previously.

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Congenital mydriasis combined with aneurysmal dilatation of a persistent ductus arteriosus Botalli: a rare syndrome

Abstract: ABSTRACT.A child with congenital mydriasis and aneurismal dilatation of persistent ductus arteriosus is described. We discuss congenital mydriasis as a separate entity and in combination with heart diseases.

Cited by 17 publications

References 6 publications

Isolated Bilateral Congenital Iris Sphincter Agenesis

Isolated Bilateral Congenital Iris Sphincter Agenesis

Twins With Progressive Thoracic Aortic Aneurysm, Recurrent Dissection and ACTA2 Mutation

Congenital Mydriasis: Diagnostic Challenge in a Case with Accompanying Neurologic Symptoms

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