iPedia Free Information Center

Information about Kearns Sayre Syndrome


Classification & external resources
ICD-10H49.8
ICD-9277.87
OMIM530000
DiseasesDB7137
eMedicineped/2763 
MeSHD007625
Kearns-Sayre syndrome (abbreviated KSS) is a disease caused by a 5,000 base deletion in the mitochondrial DNA. As such, it is a rare genetic disease in that it can be heteroplasmic, that is, more than one genome can be in a cell at any given time. As with all mitochondrial diseases, it can only be maternally inherited.

Kearnes-Sayre syndrome starts before the age of 20.

Presentation

Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration, specifically retinitis pigmentosa, common features.

Other characteristic features of are dysphagia, proximal weakness, hearing loss, cerebellar ataxia and cardiac conduction defects.

Prognosis

There is no treatment for Kearnes-Sayre syndrome as of now. In general, only palliative medications are available to sufferers in order to help relieve the symptoms of the disease.

Eponym

It is named for Thomas Kearns and George Sayre.[1][2]

References

1. ^ synd/1884 at Who Named It
2. ^ Kearns T, Sayre G (1958). "Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases". A.M.A. archives of ophthalmology 60 (2): 280-9. PMID 13558799. 

External links

 •  • [ e]
Mitochondrial diseases
MyopathiesMELAS - MERRF - KSS - PEO
OtherDAD - Friedreich's ataxia - LHON - Leigh's - NARP - MNGIE - PCD - PDHA - Pearson syndrome
 •  • [ e]
Pathology of the eye (primarily , )
Eyelid, lacrimal system and orbitStye - Chalazion - Blepharitis - Entropion - Ectropion - Lagophthalmos - Blepharochalasis - Ptosis - Xanthelasma - Trichiasis - Dacryoadenitis - Epiphora - Exophthalmos - Enophthalmos
ConjunctivaConjunctivitis - Pterygium - Pinguecula - Subconjunctival hemorrhage
Sclera and corneaScleritis - Keratitis - Corneal ulcer - Snow blindness - Thygeson's superficial punctate keratopathy - Fuchs' dystrophy - Keratoconus - Keratoconjunctivitis sicca - Arc eye - Keratoconjunctivitis - Corneal neovascularization - Kayser-Fleischer ring - Arcus senilis - Band keratopathy
Iris and ciliary bodyIritis - Uveitis - Iridocyclitis - Hyphema - Persistent pupillary membrane
LensCataract - Aphakia
Choroid and retinaChorioretinitis - Retinal detachment - Retinoschisis - Retinopathy (Hypertensive retinopathy, Diabetic retinopathy, Retinopathy of prematurity) - Macular degeneration - Retinitis pigmentosa - Retinal haemorrhage - Central serous retinopathy - Macular edema - Epiretinal membrane - Macular pucker
Optic nerve and visual pathwaysOptic neuritis - Papilledema - Optic atrophy
Ocular muscles,
binocular movement,
accommodation and refraction		Paralytic strabismus: Ophthalmoparesis - Progressive external ophthalmoplegia - Palsy (III, IV, VI) - Kearns-Sayre syndrome Other strabismus: Esotropia/Exotropia - Hypertropia - Heterophoria (Esophoria, Exophoria) - Brown's syndrome - Duane syndrome
Other binocular: Conjugate gaze palsy - Convergence insufficiency - Internuclear ophthalmoplegia - One and a half syndrome
Refractive error: Hyperopia/Myopia - Astigmatism - Anisometropia/Aniseikonia - Presbyopia
Visual disturbances and blindnessAmblyopia - Leber's congenital amaurosis - Subjective (Asthenopia, Hemeralopia, Photophobia, Scintillating scotoma) - Diplopia - Scotoma - Anopsia (Binasal hemianopsia, Bitemporal hemianopsia, Homonymous hemianopsia, Quadrantanopia) - Color blindness (Achromatopsia) - Nyctalopia - Blindness/Low vision
PupilAnisocoria - Argyll Robertson pupil - Marcus Gunn pupil/Marcus Gunn phenomenon - Adie syndrome
Infectious diseasesTrachoma - Onchocerciasis
OtherNystagmus - Miosis - Mydriasis - Glaucoma - Floater - Leber's hereditary optic neuropathy - Red eye - Keratomycosis - Xerophthalmia - Aniridia
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
List of ICD-10 codes. The version for 2007 is available online at [1]

Chapter Blocks Title
I Certain infectious and parasitic diseases
II Neoplasms
III Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
..... Click the link for more information.
For other uses of "ICD", see ICD (disambiguation).


The International Statistical Classification of Diseases and Related Health Problems (most commonly known by the abbreviation ICD
..... Click the link for more information.
The following is a list of codes for International Statistical Classification of Diseases and Related Health Problems. These codes are in the public domain.

See also


..... Click the link for more information.
The Diseases Database is a free website that provides information about the relationships between medical conditions, symptoms, and medications.

It directly integrates the Unified Medical Language System.

External links

  • Diseases Database

..... Click the link for more information.
eMedicine is an online clinical medical knowledge base that was founded in 1996 by Scott Plantz and Richard Lavely, two medical doctors. It was sold to WebMD in January 2006.
..... Click the link for more information.
Medical Subject Headings (MeSH) is a huge controlled vocabulary (or metadata system) for the purpose of indexing journal articles and books in the life sciences. Created and updated by the United States National Library of Medicine (NLM), it is used by the MEDLINE/PubMed
..... Click the link for more information.
Editing of this page by unregistered or newly registered users is currently disabled due to vandalism.
If you are prevented from editing this page, and you wish to make a change, please discuss changes on the talk page, request unprotection, log in, or .
..... Click the link for more information.
Editing of this page by unregistered or newly registered users is currently disabled due to vandalism.
If you are prevented from editing this page, and you wish to make a change, please discuss changes on the talk page, request unprotection, log in, or .
..... Click the link for more information.
Heteroplasmy is the presence of a mixture of more than one type of an organellar genome (mitochondrial DNA (mtDNA) or plastid DNA) within a cell or individual. Since every eukaryotic cell contains many hundreds of mitochondria with hundreds of copies of mtDNA, it is possible and
..... Click the link for more information.
MeSH D028361 Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that comprise higher-order lifeforms (including humans).
..... Click the link for more information.
Eyes are organs of vision that detect light. Different kinds of light-sensitive organs are found in a variety of organisms. The simplest eyes do nothing but detect whether the surroundings are light or dark, while more complex eyes can distinguish shapes and colors.
..... Click the link for more information.
MeSH D009886

Ophthalmoparesis is a physical finding in certain neurologic illnesses. It refers to paralysis of the extraocular muscles which are responsible for eye movements.
..... Click the link for more information.
For the moth genus, see Retina (moth).


The retina is a thin layer of neural cells that lines the back of the eyeball of vertebrates and some cephalopods. It is comparable to the film in a camera.
..... Click the link for more information.
Retinitis pigmentosa
Classification & external resources

ICD-10 H 35.5
ICD-9 362.74

OMIM 268000

MeSH D012174

Retinitis pigmentosa, or RP, is a group of genetic eye conditions.
..... Click the link for more information.
Dysphagia
Classifications and external resources

ICD-10 R 13.
ICD-9 787.2

DiseasesDB 17942
MedlinePlus 003115
eMedicine pmr/194  

Dysphagia (
..... Click the link for more information.
MeSH D034381 A hearing impairment or hearing loss is a full or partial decrease in the ability to detect or understand sounds.[1] Caused by a wide range of biological and environmental factors, loss of hearing can happen to any organism that perceives sound.
..... Click the link for more information.
The cerebellum (Latin: "little brain") is a region of the brain that plays an important role in the integration of sensory perception and motor output. Many neural pathways link the cerebellum with the motor cortex—which sends information to the muscles causing them
..... Click the link for more information.
Ataxia From Greek αν (used as a negative prefix) + τάξις (order), meaning "lack of order". It is a neurological sign and symptom consisting of gross incoordination of muscle movements.
..... Click the link for more information.
heart is a muscular organ responsible for pumping blood through the blood vessels by repeated, rhythmic contractions, or a similar structure in the annelids, mollusks, and arthropods.
..... Click the link for more information.
Palliative care (from Latin palliare, to cloak) is any form of medical care or treatment that concentrates on reducing the severity of disease symptoms, rather than providing a cure.
..... Click the link for more information.
Who Named It? is an English-language dictionary of medical eponyms and the people associated with their identification. Though this is a dictionary, many eponyms and persons are presented in extensive articles with comprehensive bibliographies.
..... Click the link for more information.
The National Institute of Neurological Disorders and Stroke is a part of the U.S. National Institutes of Health.

The NINDS conducts and supports research on brain and nervous system disorders. Created by the U.S.
..... Click the link for more information.
MeSH D028361 Mitochondrial diseases are a group of disorders relating to the mitochondria, the organelles that are the "powerhouses" of the eukaryotic cells that comprise higher-order lifeforms (including humans).
..... Click the link for more information.
MeSH D017240 Mitochondrial myopathy are a type of myopathy associated with mitochondrial disease.

Examples include:
  • Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS)

..... Click the link for more information.
MeSH D017243 MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease involving the following characteristics:
  • progressive myoclonic epilepsy

..... Click the link for more information.
Progressive external ophthalmoplegia
Classification & external resources

ICD-10 H 49.4
ICD-9 378.72

OMIM 157640
DiseasesDB 29124

eMedicine oph/510  
MeSH D017246 Progressive external ophthalmoplegia
..... Click the link for more information.
Diabetes mellitus and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) is a mitochondrial disease associated with the gene "Leu-UUR".

See also

  • diabetes
  • deafness

External links


..... Click the link for more information.
MeSH D005621 Friedreich's ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from gait disturbance and speech problems to heart disease.
..... Click the link for more information.
MeSH D029242 Leber’s hereditary optic neuropathy (LHON) or Leber optic atrophy is a mitochondrially inherited (mother to all offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; this
..... Click the link for more information.


This article is copied from an article on Wikipedia.org - the free encyclopedia created and edited by online user community. The text was not checked or edited by anyone on our staff. Although the vast majority of the wikipedia encyclopedia articles provide accurate and timely information please do not assume the accuracy of any particular article. This article is distributed under the terms of GNU Free Documentation License.
Herod_Archelaus


page counter