Kearns-Sayre syndrome
Kearns-Sayre syndrome (KSS) is a mitochondrial disease characterized by progressive external ophthalmoplegia (PEO), pigmentary retinitis and an onset before the age of 20 years. Common additional features include deafness, cerebellar ataxia and heart block.
MONDO:0015368
obsolete neuro-ophthalmological disease (obsolete MONDO:0015368)
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
MONDO:0005181
progressive external ophthalmoplegia
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
MONDO:0016387
mitochondrial oxidative phosphorylation disorder
is_a
MONDO:0020127
hereditary peripheral neuropathy
is_a
MONDO:0024458
disorder of visual system
is_a
CPEO with ragged red fibers
related
CPEO with ragged red fibres
related
CPEO with ragged-Red fibres
related
KSS
related
Kearns Sayre Syndrome
exact
Kearns-Sayre syndrome
exact
ophthalmoplegia plus syndrome
related
ophthalmoplegia, progressive external, with ragged red fibers
related
ophthalmoplegia, progressive external, with ragged red fibres
related
ophthalmoplegia, progressive external, with ragged-Red fibres
related