Penetrating Keratoplasty for Corneal Amyloidosis in Familial Amyloidosis, Finnish Type

Mattila, Jaakko S.; Krootila, Kari; Kivelä, Tero; Holopainen, Juha M.

doi:10.1016/j.ophtha.2014.09.035

Cited by 15 publications

(16 citation statements)

References 35 publications

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“…In conclusion, the main findings in this study revealed major pathological changes in arteries: severe disruption of the arterial wall with disorganization of VSMCs, accumulation of AGel fibrils and collagen in arterial tunica media , and association of AGel fibrils with lamina elastica interna , which is abnormally fragmented and reduced. The arterial walls in HGA seem to be more fragile, consistent with poor mechanical properties, observed earlier clinically in the skin, especially in facial regions , as well as in corneal tissue . This appears to cause abnormal vascular permeability, as suggested by perivascular fibrinogen immunoreactivity noted in an HGA brain autopsy study , and it may also lead to cerebral hemorrhages.…”

Section: Discussionsupporting

confidence: 68%

“…At present, only symptomatic treatments are available for the patients . Therefore, clarification of the true pathogenesis of HGA, an objective to which our findings most likely also contribute, is important for providing the basis for developing evidence based novel specific treatments, in a similar manner to the recently reported nanobodies which target AGel formation .…”

Section: Discussionmentioning

confidence: 67%

“…Collagens have not been previously studied in HGA, and our novel findings now suggest that they may have a significant influence on the pathogenesis of HGA. Findings at clinical examinations, such as abnormal consistency and attachment of the skin to underlying tissues, and the difficulties in facial and cornea‐transplant surgeries caused by the fragility of the tissues , strongly refers to a wider scale connective tissues derangement.…”

Section: Discussionmentioning

confidence: 99%

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Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Koskelainen

Pihlamaa

Suominen

et al. 2016

APMIS

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Hereditary gelsolin amyloidosis (HGA) is a dominantly inherited systemic disease reported worldwide. HGA is characterized by ophthalmological, neurological, and dermatological manifestations. AGel amyloid accumulates at basal lamina of epithelial and muscle cells, thus amyloid angiopathy is encountered in nearly every organ. HGA patients have cardiovascular, hemorrhagic, and potentially vascularly induced neurological problems. To clarify pathomechanisms of AGel angiopathy, we performed histological, immunohistochemical, and electron microscopic analyses on facial temporal artery branches from 8 HGA patients and 13 control subjects. We demonstrate major pathological changes in arteries: disruption of the tunica media, disorganization of vascular smooth muscle cells, and accumulation of AGel fibrils in arterial walls, where they associate with the lamina elastica interna, which becomes fragmented and diminished. We also provide evidence of abnormal accumulation and localization of collagen types I and III and an increase of collagen type I degradation product in the tunica media. Vascular smooth muscle cells appear to be morphologically and semi-quantitatively normal, only their basal lamina is often thickened. In conclusion, angiopathy in HGA results in severe disruption of arterial walls, characterized by prominent AGel deposition, collagen derangement and severe elastolysis, and it may be responsible for several, particularly hemorrhagic, disease manifestations in HGA.

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Section: Discussionsupporting

confidence: 68%

Section: Discussionmentioning

confidence: 67%

Section: Discussionmentioning

confidence: 99%

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Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Koskelainen

Pihlamaa

Suominen

et al. 2016

APMIS

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“…Corneal neovascularisation is a sight threatening complication which can be managed by topical bevacizumab (5 mg/ml) eye drops 2 to 4 times daily. 23,24 The use of subconjunctival and intravitreal anti-VEGF has been associated with the reduction of corneal nerve parameters 25 and with corneal neurotrophic factors content decrease in mice. 26 In the current case bevacizumab (5 mg/ml) was introduced 6 weeks after the infectious keratitis on the left eye twice a day.…”

Section: Discussionmentioning

confidence: 99%

Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature

Alafaleq

Knoeri

Boutboul

et al. 2020

European Journal of Ophthalmology

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Purpose: To describe the management and multimodal imaging of lattice corneal dystrophy type II (LCD-II) complicated by an infectious keratitis due to a bandage contact lens and to review current literature. Observation: A 50-year-old female was diagnosed with Meretoja’s Syndrome by the triad of facial palsy, loose skin (cutix laxa), and stromal corneal dystrophy. At slit lamp, bilateral lattice corneal dystrophy (LCD) was characterized by multiple linear refractile lines and subepithelial fibrosis along with Neurotrophic keratitis Mackie grade I. Findings of anterior segment optical coherence tomography (AS-OCT) were epithelial irregularity, subepithelial fibrosis, hyperreflectivity on anterior stromal layer, lobulated stromal surface. In vivo confocal microscopy (IVCM) showed hyperreflected deposits on the basal and Bowman layers, visible keratocytes; fine lines and streaks between corneal lamella. The sub-basal nerve plexus and the stromal nerves were no longer visible. She presented in emergency with a left red eye. A severe bacterial keratitis was diagnosed as a complication of a bandage contact lens used to treat recurrent epithelial erosion. Corneal anesthesia was complete. Corneal neovascularization was evident 10 weeks later and topical bevacizumab (5 mg/ml) was introduced twice daily. Partial regression of deep stromal vessels was noticed at 3 months. Conclusion: In Meretoja’s syndrome, neurotrophic keratopathy secondary to polyneuropathy due to systemic amyloid deposits is present in the advanced stages, promotes recurrent corneal erosions. Corneal sensitivity test, AS-OCT and IVCM are crucial in the diagnosis behind any recurrent corneal erosion. The use of bandage contact lens should be avoided in Meretoja’s syndrome to prevent a possible infectious keratitis.

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“…Treatment consists mainly in severe dry-eye control and intraocular pressure monitoring. In some cases that present with extremely low visual acuity due to corneal scarring, a corneal transplant could be performed, but prognosis is very poor [ 11 ]. Even though a cure for the disease has not been discovered yet, there are animal models that could help develop a therapy in the future [ 12 ].…”

Section: Discussionmentioning

confidence: 99%

The First Argentinian Family with Familial Amyloidosis of the Finnish Type

Saá

Cremona

Mínguez

et al. 2017

Case Rep Ophthalmol

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Familial amyloidosis of the Finnish type or Meretoja syndrome is a rare autosomic dominant inherited systemic condition. It was first described by Meretoja in Finland in 1969. It is a disease produced by a single mutation in the gene coding for gelsolin, which generates an abnormal protein that cumulates in tissues and leads to various signs. Obtaining an early diagnosis can be challenging, as the first manifestations of the disease are ophthalmological and may only be seen with slit-lamp biomicroscopy. We present the first 3 cases diagnosed in Argentina, confirmed by genetic molecular testing.

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Penetrating Keratoplasty for Corneal Amyloidosis in Familial Amyloidosis, Finnish Type

Cited by 15 publications

References 35 publications

Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Gelsolin amyloid angiopathy causes severe disruption of the arterial wall

Contact lens induced bacterial keratitis in LCD II: Management and multimodal imaging: a case report and review of literature

The First Argentinian Family with Familial Amyloidosis of the Finnish Type

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