WikiNow lets you discover the news you care about, follow the topics that matter to you and share your favourite stories with your friends.

© WikiNow

Kearns–Sayre syndrome , also known as oculocraniosomatic disorder or oculocraniosomatic neuromuscular disorder with ragged red fibers, is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia , a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid and eye . This results in ptosis and ophthalmoplegia respectively. KSS involves a combination of the already described CPEO as well as bilateral pigmentary retinopathy and cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant.

Kearns-Sayre syndrome
Classification and external resources
Specialty ophthalmology
ICD-10 H49.8
ICD-9-CM 277.87
OMIM 530000
DiseasesDB 7137
eMedicine article/950897
MeSH D007625
GeneReviews

Kearns–Sayre syndrome (abbreviated KSS), also known as oculocraniosomatic disorder or oculocraniosomatic neuromuscular disorder with ragged red fibers, is a mitochondrial myopathy with a typical onset before 20 years of age. KSS is a more severe syndromic variant of chronic progressive external ophthalmoplegia (abbreviated CPEO), a syndrome that is characterized by isolated involvement of the muscles controlling movement of the eyelid (levator palpebrae, orbicularis oculi) and eye (extra-ocular muscles). This results in ptosis and ophthalmoplegia respectively. KSS involves a combination of the already described CPEO as well as bilateral pigmentary retinopathy and cardiac conduction abnormalities. Other symptoms may include cerebellar ataxia, proximal muscle weakness, deafness, diabetes mellitus, growth hormone deficiency, hypoparathyroidism, and other endocrinopathies. In both of these diseases, muscle involvement may begin unilaterally but always develops into a bilateral deficit, and the course is progressive. This discussion is limited specifically to the more severe and systemically involved variant.

Kearn Sayre Syndrome

Kearns Sayre Syndrome

This video is about Kearns Sayre Syndrome.

Kearns-Sayre syndrome Triad

Watch the to remember kearns-Sayre syndrome in a simplified way.

Kearns-Sayre Syndrome

Taking a look at Kearns-Sayre Syndrome at the cellular level, and its connection to cellular respiration.

Kearns-Sayre Syndrome

A biology video on Kearns-Sayre Syndrome video created by Matthew McParland and Leah Davis.-- Created using PowToon -- Free sign up at ...

Kearns-Sayre Case