Dataset Information

Dissecting Aortic Aneurysm 55 Years after Diagnosis of Iris Flocculi.

ABSTRACT:

Purpose

The aim of this study is to report the clinical features, imaging studies, surgical removal, and pathology of congenital iris flocculi in a patient who developed a life-threatening dissecting aortic aneurysm after 55 years of follow-up.

Methods

Documentation with iris photography was performed from age 18 to 55 years, at which time anterior segment optical coherence tomography (OCT) was performed. At the time of subsequent cataract surgery, the iris flocculi were removed in each eye and submitted for light and electron microscopy.

Results

The size and shape of the iris flocculi waxed and waned over the years but caused no visual disturbance. Anterior segment OCT demonstrated clear, round cysts with thin lining and no solid component. At the age of 55, congestive heart failure from a dissecting aortic aneurysm was discovered and surgically repaired. Subsequent bilateral cataract surgery and cyst removal were performed, and the iris flocculi were studied with light and electron microscopy.

Conclusions

Congenital iris flocculi cause little, if any, visual impairment in most cases. However, they are occasionally associated with dissecting aortic aneurysm due to a shared mutation in smooth muscle that affects both the iris and the aorta. Patients with iris flocculi should be monitored periodically for aortic abnormalities.

SUBMITTER: Shields JA

PROVIDER: S-EPMC5091241 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature

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Publications

Dissecting Aortic Aneurysm 55 Years after Diagnosis of Iris Flocculi.

Shields Jerry A JA Magrath George N GN Shields Carol C Mackool Richard R Eagle Ralph C RC Grossniklaus Hans E HE

Ocular oncology and pathology 20160421 4

<h4>Purpose</h4>The aim of this study is to report the clinical features, imaging studies, surgical removal, and pathology of congenital iris flocculi in a patient who developed a life-threatening dissecting aortic aneurysm after 55 years of follow-up.<h4>Methods</h4>Documentation with iris photography was performed from age 18 to 55 years, at which time anterior segment optical coherence tomography (OCT) was performed. At the time of subsequent cataract surgery, the iris flocculi were removed i ...[more]

PMID: 27843899

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Project description:Rationale: The progressive disruption of extracellular matrix (ECM) proteins, particularly early elastin fragmentation followed by abnormalities in collagen fibril organization, are key pathological processes that contribute to dissecting abdominal aortic aneurysm (AAA) pathogenesis. Lysyl hydroxylase 1 (LH1) is essential for type I/III collagen intermolecular crosslinking and stabilization. However, its function in dissecting AAA has not been explored. Here, we investigated whether LH1 is significantly implicated in dissecting AAA progression and therapeutic intervention. Methods and Results: Sixteen-week-old male LH1-deficient and wild-type (WT) mice on the C57Bl/6NCrl background were infused with angiotensin II (Ang II, 1000 ng/kg per minute) via subcutaneously implanted osmotic pumps for 4 weeks. Ang II increased LH1 levels in the abdominal aortas of WT mice, whereas mice lacking LH1 developed dissecting AAA. To evaluate the related mechanism, we performed whole-transcriptomic analysis, which demonstrated that LH1 deficiency aggravated gene transcription alterations; in particular, the expression of thrombospondin-1 was markedly upregulated in the aortas of LH1-deficient mice. Furthermore, targeting thrombospondin-1 with TAX2 strongly inhibited the proinflammatory process, matrix metalloproteinase (MMP) activity and vascular smooth muscle cells (VSMCs) apoptosis, ultimately decreasing the incidence of dissecting AAA. Restoration of LH1 protein expression in LH1-deficient mice by intraperitoneal injection of an adeno-associated virus normalized thrombospondin-1 levels, subsequently alleviating dissecting AAA formation and preserving aortic structure and function. Consistently, in human AAA specimens, decreased LH1 expression was associated with increased thrombospondin-1 levels. Conclusions: LH1 deficiency contributes to dissecting AAA pathogenesis, at least in part, by upregulating thrombospondin-1 expression, which subsequently enables proinflammatory processes, MMP activation and VSMCs apoptosis. Our study provides evidence that LH1 is a potential critical therapeutic target for AAA.

Dataset Information

Dissecting Aortic Aneurysm 55 Years after Diagnosis of Iris Flocculi.

Purpose

Methods

Results

Conclusions

Publications

Dissecting Aortic Aneurysm 55 Years after Diagnosis of Iris Flocculi.

Similar Datasets

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