Progressive external ophthalmoplegia

초록

Mitochondrial disorders of energy metabolism are a diverse and frequently overlapping group of inborn errors of metabolism. They are clinically heterogeneous and include conditions with prominent ophthalmic features such as Leber hereditary optic neuropathy and inherited optic neuropathies, MIDD (maternally inherited diabetes and deafness) and progressive external ophthalmoplegias. Progressive external ophthalmoplegias is the descriptive term for a group of conditions associated with ptosis and ophthalmoparesis. They may be sporadic, inherited as a maternally-inherited (mitochondrial) trait or inherited as autosomal disorders caused by mutations in nuclear genes. The spectrum of overlapping clinical phenotypes includes Kearns-Sayre syndrome (KSS), PEO (progressive external ophthalmoplegia) and PEO-plus syndrome (PEO in the presence of generalised myopathic features). KSS is an early onset (> 20 years) condition associated with PEO, pigmentary retinopathy and systemic abnormalities such as cardiac conduction defects and generalised myopathy. Frequently multisystemic, clinical management of KSS/PEO requires a multidisciplinary approach. Genetic testing to evaluate for both mitochondrial and nuclear genetic abnormalities, often alongside muscle biopsy, is key for diagnosis. © 2022 Elsevier Inc.

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