Chronological Observations of Iris Flocculi in a Japanese Family with Thoracic Aortic Aneurysm and Dissections

Iris flocculi, a type of hereditary iris pigment epithelial cyst, have been reported in association with smooth muscle α-2 actin (ACTA2) gene as the causative gene of familial thoracic aortic aneurysm and dissections (FTAAD). The purpose of the report was to examine morphological changes in the shape of flocculi and iris features over time by comparing infants to adults with FTAAD combined with iris flocculi. A Japanese family with FTAAD and bilateral iris flocculi and the Arg149Cys gene mutation was included. A slit-lamp photograph and anterior segment optical coherence tomography (AS-OCT) were used to evaluate the structure and location of iris flocculi. AS-OCT was also used to measure the internal shape and iris thickness of the dilated pupil muscle. A morphological change in the cyst was confirmed to be existent in the youngest cases. Pigment discoloration and iris atrophy of the iris body were observed in all cases. Besides, a decrease in iris thickness was observed with AS-OCT measurement. Changes across generations in iris flocculi occurred in a Japanese family with TAAD. ACTA2 gene abnormalities may cause iris atrophy and decrease thickness in addition to iris flocculi in early life. The prognosis is poor when FTAAD is combined with iris flocculi, and prevention of cardiovascular disease is necessary based on earlier findings of its emergence.

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Molecular Pathogenesis and the Possible Role of Mitochondrial Heteroplasmy in Thoracic Aortic Aneurysm

Life ◽

10.3390/life11121395 ◽

2021 ◽

Vol 11 (12) ◽

pp. 1395

Author(s):

A. V. Suslov ◽

M. A. Afanasyev ◽

P. A. Degtyarev ◽

P. V. Chumachenko ◽

M. Bagheri Ekta ◽

...

Keyword(s):

Aortic Aneurysm ◽

Thoracic Aortic Aneurysm ◽

Aortic Wall ◽

Morphological Changes ◽

Genetic Disorders ◽

Threatening Condition ◽

Mitochondrial Pathology ◽

Active Research ◽

Mitochondrial Dna Heteroplasmy

Thoracic aortic aneurysm (TAA) is a life-threatening condition associated with high mortality, in which the aortic wall is deformed due to congenital or age-associated pathological changes. The mechanisms of TAA development remain to be studied in detail, and are the subject of active research. In this review, we describe the morphological changes of the aortic wall in TAA. We outline the genetic disorders associated with aortic enlargement and discuss the potential role of mitochondrial pathology, in particular mitochondrial DNA heteroplasmy, in the disease pathogenesis.

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Bilateral Iris Atrophy after the Femtosecond Assisted Laser In Situ Keratomileusis Surgery

Case Reports in Ophthalmological Medicine ◽

10.1155/2015/127806 ◽

2015 ◽

Vol 2015 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Kenan Olcay ◽

Akin Cakir ◽

Sercan Koray Sagdic ◽

Eyup Duzgun ◽

Yildiray Yildirim

Keyword(s):

Anterior Segment ◽

Laser In Situ Keratomileusis ◽

Slit Lamp ◽

Vascular Plexus ◽

Case Presentation ◽

Slit Lamp Examination ◽

Corrected Visual Acuity ◽

Direct Light ◽

Iris Atrophy

Purpose. To report an unknown complication of laser in situ keratomileusis (LASIK) surgery.Case Presentation. A 28-year-old female presented with photophobia and glare to our eye service. She stated in her medical history that she had undergone femtosecond assisted LASIK surgery in both eyes 15 months ago and her symptoms started just after this surgery. On admission, her best-corrected visual acuity was 10/10 in both eyes. She had mydriatic pupils with no direct light reflex. Examination of the anterior segment revealed bilateral iris atrophy projecting within the LASIK ablation zone and a transillumination defect was remarkable on the slit lamp examination.Conclusion. We hypothesized that this condition may have been caused by the abnormally increased IOP that resulted in ischemia in the iris vascular plexus during the suction process of surgery.

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Idiopathic polypoidal choroidal vasculopathy

Vojnosanitetski pregled ◽

10.2298/vsp1201085c ◽

2012 ◽

Vol 69 (1) ◽

pp. 85-89

Author(s):

Sonja Cekic ◽

Dijana Risimic ◽

Ivan Jovanovic ◽

Jasmina Djordjevic-Jocic

Keyword(s):

Retinal Pigment Epithelium ◽

Polypoidal Choroidal Vasculopathy ◽

Pigment Epithelium ◽

Retinal Pigment ◽

Anterior Segment ◽

Age Related Macular Degeneration ◽

Slit Lamp ◽

Pigment Epithelial ◽

Choroidal Vasculopathy ◽

Slit Lamp Biomicroscopy

Background. Idiopathic polypoidal choroidal vasculopathy (IPCV) is uncommon condition. It is considered to be a variant of neovascular age-related macular degeneration, but it can be also found in younger patients. Case report. We presented a case of otherwise healthy, 36-year-old women, with sudden unilateral visual impairment in the left eye and metamorphosia. Slit lamp biomicroscopy examination of the eye anterior segment was normal. Intraocular pressure determined by aplanation tonometry was 16 mmHg in both eyes. Indirect slit lamp biomicroscopy examination showed signs of serosanquinous detachments of the retinal pigment epithelium. Fluorescein angiography showed a subretinal vessel network through the pigment epithelial atrophy with hyperfluorescence in superior part of serohemorrhagic pigment epithelial detachment and the inferior hypofluorescence, caused by hemorrhage. Optical coherence tomography proved detachment of the retinal pigment epithelium. Conclusion. In patients with IPCV a mild, natural course with spontaneous resorption of exudations and hemorrhage and improvement in visual acuity can be observed. There is no approved treatment at present.

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