Biomaterial Database

Ocular myopathies. 1985

F M Tomé, and M Fardeau

Ocular myopathies are manifested by primary and progressive involvement of extraocular muscles. In most cases of involvement of extra-ocular muscles a biopsy from somatic muscles studied by histochemistry and electron microscopy permits to make the diagnosis of the underlying condition. The two main clinico-pathological types of ocular myopathies are the oculocraniosomatic syndrome (Kearns-Sayre syndrome) and oculopharyngeal muscular dystrophy. The oculocraniosomatic syndrome is a multisystemic disorder and its histopathological hallmark is the presence of ragged-red muscle fibres which contain aggregates of abnormal mitochondria, often with paracrystalline inclusions. In the oculopharyngeal muscular dystrophy are observed muscle fibres with rimmed vacuoles and intranuclear tubular filamentous inclusions about 8.5 nm in external diameter. The rimmed vacuoles may occur in other muscle diseases but the intranuclear inclusions appear to be specific for oculopharyngeal muscular dystrophy. Their nature is unknown.

UI	MeSH Term	Description	Entries
D007625	Kearns-Sayre Syndrome	A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)	Kearns Syndrome,CPEO with Myopathy,CPEO with Ragged Red Fibers,Chronic Progressive External Ophthalmoplegia with Myopathy,Cpeo With Ragged-Red Fibers,Kearn-Sayre Mitochondrial Cytopathy,Kearns Sayre Syndrome,Kearns' Syndrome,Kearns-Sayre Mitochondrial Cytopathy,Kearns-Sayre-Shy-Daroff Syndrome,Oculocraniosomatic Syndrome,Ophthalmoplegia Plus Syndrome,Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy,Ophthalmoplegia, Progressive External, With Ragged-Red Fibers,Ophthalmoplegia-Plus Syndrome,CPEO with Myopathies,Cytopathies, Kearns-Sayre Mitochondrial,Cytopathy, Kearn-Sayre Mitochondrial,Cytopathy, Kearns-Sayre Mitochondrial,Kearn Sayre Mitochondrial Cytopathy,Kearn Syndrome,Kearns Sayre Mitochondrial Cytopathy,Kearns Sayre Shy Daroff Syndrome,Kearns-Sayre Mitochondrial Cytopathies,Mitochondrial Cytopathies, Kearns-Sayre,Mitochondrial Cytopathy, Kearn-Sayre,Mitochondrial Cytopathy, Kearns-Sayre,Myopathies, CPEO with,Myopathy, CPEO with,Oculocraniosomatic Syndromes,Ophthalmoplegia Plus Syndromes,Ophthalmoplegia-Plus Syndromes,Sayre Syndrome, Kearns,Syndrome, Kearns,Syndrome, Kearns Sayre,Syndrome, Kearns',Syndrome, Kearns-Sayre,Syndrome, Kearns-Sayre-Shy-Daroff,Syndrome, Oculocraniosomatic,Syndrome, Ophthalmoplegia Plus,Syndrome, Ophthalmoplegia-Plus,Syndromes, Ophthalmoplegia-Plus
D008931	Mitochondria, Muscle	Mitochondria of skeletal and smooth muscle. It does not include myocardial mitochondria for which MITOCHONDRIA, HEART is available.	Sarcosomes,Mitochondrion, Muscle,Muscle Mitochondria,Muscle Mitochondrion,Sarcosome
D009135	Muscular Diseases	Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D009136	Muscular Dystrophies	A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS.	Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D009801	Oculomotor Muscles	The muscles that move the eye. Included in this group are the medial rectus, lateral rectus, superior rectus, inferior rectus, inferior oblique, superior oblique, musculus orbitalis, and levator palpebrae superioris.	Extraocular Muscles,Extraocular Rectus Muscles,Inferior Oblique Extraocular Muscle,Inferior Oblique Muscles,Levator Palpebrae Superioris,Musculus Orbitalis,Oblique Extraocular Muscles,Oblique Muscle, Inferior,Oblique Muscle, Superior,Oblique Muscles, Extraocular,Rectus Muscles, Extraocular,Superior Oblique Extraocular Muscle,Superior Oblique Muscle,Extraocular Muscle,Extraocular Muscle, Oblique,Extraocular Muscles, Oblique,Extraocular Oblique Muscle,Extraocular Oblique Muscles,Extraocular Rectus Muscle,Inferior Oblique Muscle,Muscle, Oculomotor,Muscles, Oculomotor,Oblique Extraocular Muscle,Oblique Muscle, Extraocular,Oblique Muscles, Inferior,Oblique Muscles, Superior,Oculomotor Muscle,Rectus Muscle, Extraocular,Superior Oblique Muscles
D010609	Pharyngeal Muscles	The muscles of the PHARYNX are voluntary muscles arranged in two layers. The external circular layer consists of three constrictors (superior, middle, and inferior). The internal longitudinal layer consists of the palatopharyngeus, the salpingopharyngeus, and the stylopharyngeus. During swallowing, the outer layer constricts the pharyngeal wall and the inner layer elevates pharynx and LARYNX.	Palatopharyngeus,Muscles of Pharynx,Palatopharyngeal Muscle,Salpingopharyngeus,Stylopharyngeus,Velopharyngeal Muscle,Muscle, Palatopharyngeal,Muscle, Pharyngeal,Muscle, Velopharyngeal,Muscles, Pharyngeal,Pharyngeal Muscle,Pharynx Muscle,Pharynx Muscles
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man