KEARNS-SAYRE SYNDROME (KSS)

Question 1

What is  KEARNS-SAYRE SYNDROME (KSS)?

Accepted Answer

rare
mitochondrial inheritance

mitochondrial DNA (mtDNA) deletions

KSS is defined by the following triad: onset before the age of 20, CPEO, and pigmentary retinopathy [Shemesh A 2019]

Children who survive Pearson snydrome may progress to develop Kearns-Sayre syndrome later in life [Wild KT 2019].

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Kearns-Sayre-Syndrom [Ophthalmoplegia plus]

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 530000

Question 4

Which enzymes are involved?

Accepted Answer

defect of oxidative phosphorylation (OXPHOS)

Disease	KEARNS-SAYRE SYNDROME (KSS)
Synonym	OPHTHALMOPLEGIA, PIGMENTARY DEGENARATION OF RETINA AND CARDIOMYOPATHY; KEARNS-SAYRE DISEASE
OMIM	530000 OMIM = Online Mendelian Inheritance of Men
Orphanet	480
Gene locus	mtDNA
ICD	H49.8
Summary	rare mitochondrial inheritance mitochondrial DNA (mtDNA) deletions KSS is defined by the following triad: onset before the age of 20, CPEO, and pigmentary retinopathy [Shemesh A 2019] Children who survive Pearson snydrome may progress to develop Kearns-Sayre syndrome later in life [Wild KT 2019].
Laboratory findings	5-Methyltetrahydrofolate (5-MTHF) dec (urine) D-Glucose dec (serum) Folate dec (cerebrospinal fluid) L-Lactic acid inc (blood) Lactate/Pyruvate ratio inc (blood) pH dec (blood) Protein, total inc (cerebrospinal fluid)
Symptoms	ataxia cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, dilated cardiomyopathy, hypertrophic coma CT, brain, abnormalities [-] dementia diabetes mellitus EMG abnormalities [-] growth retardation, poor growth hearing defect, deafness heart involvement hypoglycemia hypogonadism hypoparathyreoidism lactic acidosis mental retardation metabolic acidosis muscle weakness myopathy myopathy, ragged red fibers onset, infancy ophthalmoparesis ophthalmoplegia optic atrophy ptosis (drooping eyelid) retinal or macular degeneration retinitis pigmentosa retinopathy short stature tremor or twitching vomiting