Kearns-Sayre syndrome
Kearns-Sayre syndrome (KSS) is a form of mitochondrial myopathy in which specific clinical features, namely progressive external ophthalmoplegia, pigmentary retinal degeneration and cardiac conduction defects.
Synopsis
progressive external ophthalmoplegia
pigmentary retinal degeneration
cardiac conduction defects
multiple endocrine dysfunction (1424198)
- short stature
- hypogonadism (gonadal failure)
- diabetes mellitus
- thyroid disease
- hyperaldosteronism
- hypomagnesaemia
- bone, tooth and calcification abnormalities
- hypoparathyroidism
Differential diagnosis