Kearns–Sayre Syndrome (KSS) is a rare, inherited mitochondrial disorder marked by progressive muscle weakness, eye problems, and heart disease. It typically ...
Dr. Emily Black Davis, MD - Clinical, Biochemical Genetics, and Rare Diseases Specialist
Mitochondrial deletion syndromes are a group of rare genetic disorders caused by large-scale deletions in mitochondrial DNA (mtDNA). Unlike nuclear DNA ...
Oculopharyngeal Muscular Dystrophy (OPMD) is a hereditary muscle disorder characterized by progressive weakness of the muscles controlling the eyelids (oculo-) ...
Chronic Progressive External Ophthalmoplegia (CPEO) is a mitochondrial myopathy characterized by slowly progressive, bilateral ptosis (drooping of the eyelids) ...
Richardson’s syndrome, also known as classic progressive supranuclear palsy (PSP-RS), is a rare neurodegenerative disorder characterized by the gradual loss of ...
Progressive Supranuclear Palsy (PSP) is a rare, progressive neurodegenerative disorder characterized by the abnormal accumulation of tau protein in certain ...
One-and-a-half syndrome is a rare eye movement disorder characterized by the combination of a conjugate horizontal gaze palsy in one direction (the “one”) plus ...
Internuclear ophthalmoplegia (INO) is a neurological disorder characterized by impaired horizontal eye movement due to a lesion in the medial longitudinal ...
Nuclear ophthalmoplegia is a group of rare disorders characterized by paralysis or weakness of one or more of the extraocular muscles, caused by lesions in the ...
Abducens nerve palsy is a condition in which the sixth cranial nerve (the abducens nerve) does not function properly, leading to weakness or paralysis of the ...
Trochlear nerve palsy is a disorder affecting the fourth cranial nerve (trochlear nerve), which controls the superior oblique muscle of the eye. When this ...
Oculomotor (III) nerve palsy occurs when the third cranial nerve, known as the oculomotor nerve, is damaged or disrupted. This nerve controls most of the eye’s ...
Möbius syndrome is a rare congenital condition characterized chiefly by non-progressive facial paralysis and impaired lateral eye movement. Infants with Möbius ...
Duane Retraction Syndrome (DRS) is a congenital ocular motility disorder characterized by limited horizontal eye movement, globe retraction (the eye pulling ...
Congenital Fibrosis of the Extraocular Muscles (CFEOM) is a rare, inherited condition characterized by abnormal development and fibrosis (scarring) of the ...
Neuromuscular junction ophthalmoparesis refers to weakness or paralysis of the eye muscles caused by disorders at the junction between nerve endings and muscle ...
Myogenic ophthalmoparesis refers to weakness (-paresis) of one or more of the extraocular muscles due to a primary muscle (myogenic) disorder, rather than ...
Neurogenic ophthalmoparesis is a condition characterized by weakened or paralyzed eye muscles due to dysfunction of the cranial nerves (III, IV, VI) or their ...
Acquired ophthalmoparesis is a condition characterized by weakness or paralysis of one or more extraocular muscles—those that control eye movements—due to ...
Congenital ophthalmoparesis is a rare condition present from birth in which one or more of the extraocular muscles fail to function normally, leading to ...
