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Meretoja syndrome

MedGen UID:
301243
Concept ID:
C1622345
Disease or Syndrome
Synonyms: Amyloid cranial neuropathy with lattice corneal dystrophy; Amyloidosis 5; Amyloidosis due to mutant gelsolin; Amyloidosis Finnish type; Amyloidosis V; Amyloidosis, familial, Finnish type; Lattice corneal dystrophy associated with familial systemic amyloidosis; Lattice dystrophy of the cornea with hereditary generalized amyloidosis; Meretoja type amyloidosis; Meretoja's syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Meretoja syndrome (419398009); Amyloid cranial neuropathy with lattice corneal dystrophy (419398009); Meretoja type amyloidosis (419398009)
 
Gene (location): GSN (9q33.2)
OMIM®: 105120

Definition

The Finnish type of systemic amyloidosis is characterized clinically by a unique constellation of features including corneal lattice dystrophy, and cranial neuropathy, bulbar signs, and skin changes. Some patients may develop peripheral neuropathy and renal failure. The disorder is usually inherited in an autosomal dominant pattern; however, homozygotes with a more severe phenotype have also been reported (Meretoja, 1973). [from OMIM]

Additional description

From GHR
Lattice corneal dystrophy type II is characterized by an accumulation of protein clumps called amyloid deposits in tissues throughout the body. The deposits frequently occur in blood vessel walls and basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Amyloid deposits lead to characteristic signs and symptoms involving the eyes, nerves, and skin that worsen with age.The earliest sign of this condition, which is usually identified in a person's twenties, is accumulation of amyloid deposits in the cornea (lattice corneal dystrophy). The cornea is the clear, outer covering of the eye. It is made up of several layers of tissue, and in lattice corneal dystrophy type II, the amyloid deposits form in the stromal layer. The amyloid deposits form as delicate, branching fibers that create a lattice pattern. Because these protein deposits cloud the cornea, they often lead to vision impairment. In addition, affected individuals can have recurrent corneal erosions, which are caused by separation of particular layers of the cornea from one another. Corneal erosions are very painful and can cause sensitivity to bright light (photophobia). Amyloid deposits and corneal erosions are usually bilateral, which means they affect both eyes.As lattice corneal dystrophy type II progresses, the nerves become involved, typically starting in a person's forties. It is thought that the amyloid deposits disrupt nerve function. Dysfunction of the nerves in the head and face (cranial nerves) can cause paralysis of facial muscles (facial palsy); decreased sensations in the face (facial hypoesthesia); and difficulty speaking, chewing, and swallowing. Dysfunction of the nerves that connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, and heat (peripheral nerves) can cause loss of sensation and weakness in the limbs (peripheral neuropathy). Peripheral neuropathy usually occurs in the lower legs and arms, leading to muscle weakness, clumsiness, and difficulty sensing vibrations.The skin is also commonly affected in people with lattice corneal dystrophy type II, typically beginning in a person's forties. People with this condition may have thickened, sagging skin, especially on the scalp and forehead, and a condition called cutis laxa, which is characterized by loose skin that lacks elasticity. The skin can also be dry and itchy. Because of loose skin and muscle paralysis in the face, individuals with lattice corneal dystrophy type II can have a facial expression that appears sad.  https://ghr.nlm.nih.gov/condition/lattice-corneal-dystrophy-type-ii

Clinical features

Cutis laxa
MedGen UID:
8206
Concept ID:
C0010495
Disease or Syndrome
A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin.
Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
Polyneuropathy
MedGen UID:
57502
Concept ID:
C0152025
Disease or Syndrome
A disease or disorder affecting more than one nerve.
Lattice corneal dystrophy
MedGen UID:
56355
Concept ID:
C0155127
Disease or Syndrome
The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea.
Cardiac amyloidosis
MedGen UID:
488730
Concept ID:
C0268407
Disease or Syndrome
Extracellular deposition in cardiac tissue of a proteinaceous material that, when stained with Congo red, demonstrates apple-green birefringence under polarized light and that has a distinct color when stained with sulfated Alcian blue. Viewed with electron microscopy, the amyloid deposits are seen to be composed of a beta-sheet fibrillar material. These nonbranching fibrils have a diameter of 7.5 to 10 nm and are the result of protein misfolding.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
Bulbar palsy
MedGen UID:
220977
Concept ID:
C1301959
Disease or Syndrome
Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia.
Renal insufficiency
MedGen UID:
326535
Concept ID:
C1839604
Finding
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Generalized amyloid deposition
MedGen UID:
354872
Concept ID:
C1862968
Finding
A diffuse form of amyloidosis.
Abnormality of abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.

Recent clinical studies

Etiology

Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Mattila JS, Krootila K, Kivelä T, Holopainen JM
Ophthalmology 2015 Mar;122(3):457-63. Epub 2014 Nov 13 doi: 10.1016/j.ophtha.2014.09.035. PMID: 25444639
Mahalka AK, Maury CP, Kinnunen PK
Biochemistry 2011 Jun 7;50(22):4877-89. Epub 2011 May 13 doi: 10.1021/bi200195s. PMID: 21545139

Diagnosis

Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Sethi S, Dasari S, Amin MS, Vrana JA, Theis JD, Alexander MP, Kurtin PJ
Kidney Int 2017 Apr;91(4):964-971. Epub 2017 Jan 29 doi: 10.1016/j.kint.2016.11.017. PMID: 28139293
Pihlamaa T, Salmi T, Suominen S, Kiuru-Enari S
Muscle Nerve 2016 May;53(5):762-9. Epub 2016 Feb 26 doi: 10.1002/mus.24922. PMID: 26422119
Kiuru-Enari S, Haltia M
Handb Clin Neurol 2013;115:659-81. doi: 10.1016/B978-0-444-52902-2.00039-4. PMID: 23931809
Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL
Cornea 2011 Oct;30(10):1163-6. doi: 10.1097/ICO.0b013e31821142b5. PMID: 21743312

Therapy

Sethi S, Dasari S, Amin MS, Vrana JA, Theis JD, Alexander MP, Kurtin PJ
Kidney Int 2017 Apr;91(4):964-971. Epub 2017 Jan 29 doi: 10.1016/j.kint.2016.11.017. PMID: 28139293
Solomon JP, Page LJ, Balch WE, Kelly JW
Crit Rev Biochem Mol Biol 2012 May-Jun;47(3):282-96. Epub 2012 Feb 24 doi: 10.3109/10409238.2012.661401. PMID: 22360545Free PMC Article
Pradhan MA, Henderson RA, Patel D, McGhee CN, Vincent AL
Cornea 2011 Oct;30(10):1163-6. doi: 10.1097/ICO.0b013e31821142b5. PMID: 21743312

Prognosis

Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Sethi S, Dasari S, Amin MS, Vrana JA, Theis JD, Alexander MP, Kurtin PJ
Kidney Int 2017 Apr;91(4):964-971. Epub 2017 Jan 29 doi: 10.1016/j.kint.2016.11.017. PMID: 28139293
Nikoskinen T, Schmidt EK, Strbian D, Kiuru-Enari S, Atula S
Ann Med 2015;47(6):506-11. Epub 2015 Sep 4 doi: 10.3109/07853890.2015.1075063. PMID: 26339870
Mattila JS, Krootila K, Kivelä T, Holopainen JM
Ophthalmology 2015 Mar;122(3):457-63. Epub 2014 Nov 13 doi: 10.1016/j.ophtha.2014.09.035. PMID: 25444639
Solomon JP, Page LJ, Balch WE, Kelly JW
Crit Rev Biochem Mol Biol 2012 May-Jun;47(3):282-96. Epub 2012 Feb 24 doi: 10.3109/10409238.2012.661401. PMID: 22360545Free PMC Article

Clinical prediction guides

Lehmonen L, Kaasalainen T, Atula S, Mustonen T, Holmström M
Int J Cardiovasc Imaging 2019 Feb;35(2):351-358. Epub 2019 Mar 8 doi: 10.1007/s10554-019-01570-4. PMID: 30848402Free PMC Article
Sethi S, Dasari S, Amin MS, Vrana JA, Theis JD, Alexander MP, Kurtin PJ
Kidney Int 2017 Apr;91(4):964-971. Epub 2017 Jan 29 doi: 10.1016/j.kint.2016.11.017. PMID: 28139293
Rothstein A, Auran JD, Wittpenn JR, Koester CJ, Florakis GJ
Cornea 2002 May;21(4):364-7. PMID: 11973384
Rosenberg ME, Tervo TM, Gallar J, Acosta MC, Müller LJ, Moilanen JA, Tarkkanen AH, Vesaluoma MH
Invest Ophthalmol Vis Sci 2001 Mar;42(3):634-41. PMID: 11222521

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