Ophthalmological Manifestations of Hereditary Myopathies

Abstract

Background: Myopathies are neuromuscular disorders of the skeletal muscles, in which the main symptom is muscle weakness due to muscle fiber dysfunction. Myopathies may be classified into two main categories: inherited and acquired. Hereditary myopathies are a heterogeneous group of diseases that include congenital myopathies, mitochondrial myopathies, myotonic syndromes, muscular dystrophies, and other myopathies.

Purpose: The objective of this paper is to review the ophthalmological findings and genetic patterns of hereditary myopathies.

Methods: This review is based on articles obtained by a relevant search of the PubMed database.

Conclusion: Ophthalmoplegia with or without ptosis and pupil sparing appeared to be the most frequent ophthalmological manifestation of myopathies. The identification of the main ophthalmological features can help in the diagnosis and treatment of these muscular diseases.

Keywords: Ophthalmological; congenital myopathies; mitochondrial myopathies; myopathy; myotonic syndromes.