Meretoja syndrome

PROM mutation in gelsolin

Also Known As:

Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis 5; Amyloidosis V; Amyloidosis due to mutant gelsolin; Amyloidosis, Finnish Type; Amyloidosis, Meretoja Type; Cerebral Amyloid Angiopathy, Gsn-Related; Finnish type amyloidosis; Lattice corneal dystrophy associated with familial systemic amyloidosis; Lattice dystrophy of the cornea with hereditary generalized amyloidosis; Meretoja type amyloidosis; Meretoja's syndrome

Networked: 21 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Amyloidosis
2.	Familial Amyloidosis (Hereditary Amyloidosis)
3.	Amyloid Plaque
4.	Hereditary Corneal Dystrophies
5.	Type II Lattice Corneal Dystrophy

Experts

1.	Adams, David: 1 article (10/2021)
2.	Algalarrondo, Vincent: 1 article (10/2021)
3.	Nativi-Nicolau, Jose: 1 article (10/2021)
4.	Polydefkis, Michael: 1 article (10/2021)
5.	Sarswat, Nitasha: 1 article (10/2021)
6.	Slama, Michel S: 1 article (10/2021)
7.	Alafaleq, Munirah: 1 article (09/2021)
8.	Borderie, Vincent: 1 article (09/2021)
9.	Boutboul, Sandrine: 1 article (09/2021)
10.	Knoeri, Juliette: 1 article (09/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Meretoja syndrome:

1.	Amyloid (Amyloid Fibrils)IBA 01/01/2018 - "Pathological examination of extrarenal specimens showed that intratubular amyloid was significantly associated with the occurrence of systemic light chain amyloidosis (5/13 in the 'intratubular amyloid' group vs 0/30 in the 'no intratubular amyloid' group, P=0.001). " 04/01/1965 - "EXPERIMENTAL AMYLOIDOSIS.V. RELATIONSHIP BETWEEN EXPERIMENTAL GLOMERULAR AMYLOID AND THE MESANGIAL REGION." 01/01/2014 - "Recurrent Amyloid Material in Grafts Used in Patients with Lattice Corneal Dystrophy 2 (Meretoja's Syndrome)." 09/01/1994 - "To analyze the deposition of amyloid and its precursors in eyes of patients with familial amyloidosis, Finnish (FAF; Meretoja's syndrome), a hereditary systemic amyloidosis. " 01/01/1988 - "The characteristic, bloodhound-like appearance, which degenerates gradually, of patients with primary hereditary systemic amyloidosis, also called Meretoja's syndrome (MS), is attributable to amyloid degeneration of the craniofacial skin and peripheral facial nerves, but apparently also to amyloid deposits in the muscles; a finding not previously described. "
2.	GelsolinIBA 10/01/2022 - "On the other hand, genetics confirms the pathogenic variant c.640G>A (p.Asp214Asn) in the GSN gene, encoding gelsolin, a mutation associated with Finnish-type familial amyloidosis or Meretoja syndrome." 01/01/2020 - "Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation." 05/15/1992 - "These data indicated that the accumulation of gelsolin may be seen in various forms of amyloidosis and may not be confined to Meretoja's syndrome." 01/01/2017 - "She had severe bilateral facial paresis, significant orbicularis, and perioral sagging as well as hypoesthesia of extremities and was diagnosed with Meretoja's syndrome at the age of 50, confirmed by the presence of gelsolin mutation. " 09/01/1994 - "Ocular amyloid deposition in familial amyloidosis, Finnish: an analysis of native and variant gelsolin in Meretoja's syndrome."
3.	Prealbumin (Transthyretin)IBA 10/03/2021 - "Hereditary transthyretin-mediated amyloidosis, also known as ATTRv amyloidosis (v for variant), is a rare, autosomal dominant, fatal disease, in which systemic amyloid progressively impairs multiple organs, leading to disability and death. " 05/01/1994 - "There were 39 cases of immunoglobulin light chain-related (AL) amyloidosis (32.2%), six cases of beta 2-microglobulin-related (A beta 2M) amyloidosis (5%), and five cases of transthyretin-related (ATTR) amyloidosis (4.1%). " 10/01/2023 - "Variants of the transthyretin (TTR) gene cause hereditary transthyretin-mediated (hATTR) amyloidosis, or ATTRv amyloidosis (v for variant), which results from deposition of misfolded TTR protein as amyloid in organs and tissues. "
4.	Colchicine FDA LinkGeneric 05/01/2018 - "Colchicine remains the principle of the treatment; it not only prevents the acute attacks but also prevents the long-term complications such as amyloidosis; 5-10% of the patients are unresponsive to treatment. " 01/01/2015 - "Colchicine prevents attacks and renal amyloidosis.5% to 10% of the patients with FMF are resistant or intolerant to colchicine. " 12/01/1996 - "This report gives an update, focusing specifically on (1) newly characterized manifestations, such as acute scrotal "attacks," protracted febrile myalgia, and spondyloarthropathy; (2) progress made in the diagnosis and treatment of FMF-amyloidosis; (3) experience acquired with colchicine, establishing its safety in common practice, childhood, conception, and pregnancy; (4) colchicine's role in the prevention and treatment of FMF-amyloidosis; (5) new laboratory findings; and (6) new considerations in the differential diagnosis. "
5.	Proteins (Proteins, Gene)FDA Link 05/15/1992 - "A variant of the actin-modulating protein gelsolin has recently been identified as a component of the amyloid deposits in familial amyloidosis, Finnish type (Meretoja's syndrome), and has been demonstrated immunohistochemically in amyloid deposits in the cornea, and in the skin, kidney, heart, thyroid gland, salivary gland, and rectum of patients with this disease. " 10/01/2023 - "Variants of the transthyretin (TTR) gene cause hereditary transthyretin-mediated (hATTR) amyloidosis, or ATTRv amyloidosis (v for variant), which results from deposition of misfolded TTR protein as amyloid in organs and tissues. "
6.	Immunoglobulin Light Chains (Immunoglobulin Light Chain)IBA 05/01/1994 - "There were 39 cases of immunoglobulin light chain-related (AL) amyloidosis (32.2%), six cases of beta 2-microglobulin-related (A beta 2M) amyloidosis (5%), and five cases of transthyretin-related (ATTR) amyloidosis (4.1%). "
7.	Serum Amyloid P-ComponentIBA 12/01/1993 - "Corneal buttons from four patients with lattice corneal dystrophy (LD) type I, thought to be an isolated corneal amyloidosis, and from six patients with LD type II, part of systemic familial amyloidosis, Finnish type (FAF; Meretoja's syndrome), were studied by immunohistochemistry to determine the differential distribution in the amyloid deposits of amyloid P component (AP), mutated gelsolin specific for FAF, and native gelsolin. "

Therapies and Procedures

1.	Slit Lamp 05/01/2002 - "Three patients with Meretoja syndrome were examined by slit-lamp microscopy and scanning slit confocal microscopy. "
2.	Laryngoscopes 09/01/2004 - "Among 11 cases of clinical material of patients suffering from laryngeal amyloidosis, 5 cases operated by indirect laryngoscope, 1 case by direct laryngoscope, 2 cases by laryngofissure, 1 case by vertical hemilaryngectomy with glottis reconstruction, 2 cases weren't operated. "
3.	Phacoemulsification 01/01/2009 - "We report a patient with lattice corneal dystrophy type II, also known as Meretoja syndrome or familial amyloidosis Finnish type, who developed a corneal melt 15 days after uneventful phacoemulsification. "
4.	Heart Transplantation (Grafting, Heart) 01/01/1997 - "A patient with Finnish type familial systemic amyloidosis associated with lattice corneal dystrophy (Meretoja's syndrome) underwent heart transplantation with uneventful postoperative course. "
5.	Contact Lenses 09/01/2021 - "The use of bandage contact lens should be avoided in Meretoja's syndrome to prevent a possible infectious keratitis."