Pearson Syndrome
Pearson syndrome is a rare mitochondrial disorder characterized by a failure of the bone marrow to produce blood cells (sideroblastic anemia) and dysfunction of the pancreas’s exocrine function. ...
Rx Eye & Vision Care (A – Z)
Kearns–Sayre Syndrome
Kearns–Sayre syndrome (KSS) is a rare mitochondrial myopathy characterized by a classic triad of chronic progressive external ophthalmoplegia (CPEO), pigmentary retinopathy, and onset before 20 years ...
Sturge–Weber Syndrome (SWS)
Sturge–Weber syndrome (SWS) is a rare, non-inherited neurocutaneous disorder caused by a spontaneous somatic mosaic mutation in the GNAQ gene on chromosome 9. It is characterized by three hallmark ...
Internuclear Ophthalmoplegia
Internuclear ophthalmoplegia (INO) is a specific gaze disorder resulting from a lesion of the medial longitudinal fasciculus (MLF), the neural tract that coordinates horizontal eye movements. When ...
Bilateral Vertical Nuclear Ophthalmoplegia
Bilateral Vertical Nuclear Ophthalmoplegia is a rare condition in which the nuclei in the midbrain that control up-and-down eye movements become dysfunctional on both sides. In simple terms, the ...
Bilateral Horizontal Nuclear Ophthalmoplegia
Bilateral Horizontal Nuclear Ophthalmoplegia is a rare eye movement disorder in which the horizontal gaze centers located in the brainstem nuclei on both sides are damaged. These nuclei—the abducens ...
Hanhart Syndrome
Hanhart syndrome is a rare congenital disorder marked by underdevelopment of the tongue (hypoglossia) and variable malformations of the limbs. First described by Ernst Hanhart in 1932 and formally ...
Poland–Mobius Syndrome
Poland–Mobius syndrome is a rare congenital condition that combines features of two distinct disorders: Poland syndrome and Möbius syndrome. In Poland syndrome, individuals typically have ...
Oromandibular-Limb Hypogenesis Sequence (OLHS)
Oromandibular-Limb Hypogenesis Sequence (also called Oromandibular-Limb Hypogenesis Syndrome) is a rare congenital condition characterized by underdevelopment (hypogenesis) of structures derived from ...
Möbius Syndrome
Classical Möbius syndrome is a rare congenital neurological disorder characterized primarily by non-progressive facial paralysis and impaired ocular abduction due to underdevelopment or absence of ...
Lambert–Eaton Myasthenic Syndrome (LEMS)
Lambert–Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder that affects the communication between nerves and muscles, leading to muscle weakness and fatigue. In LEMS, the body’s immune ...
Generalized Myasthenia Gravis with Ocular Onset
Generalized Myasthenia Gravis with Ocular Onset is an autoimmune neuromuscular disorder characterized by fluctuating muscle weakness that often begins in the eye muscles and later spreads to other ...
Ocular Myasthenia Gravis (OMG)
Ocular Myasthenia Gravis (OMG) is a form of myasthenia gravis in which the weakness of voluntary muscles is confined to those controlling the eyes and eyelids. In OMG, patients experience drooping of ...
Kearns–Sayre Syndrome (KSS)
Kearns–Sayre Syndrome (KSS) is a rare, inherited mitochondrial disorder marked by progressive muscle weakness, eye problems, and heart disease. It typically appears before age 20 and can affect many ...
Mitochondrial Deletion Syndromes
Mitochondrial deletion syndromes are a group of rare genetic disorders caused by large-scale deletions in mitochondrial DNA (mtDNA). Unlike nuclear DNA mutations, mtDNA deletions arise ...
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal Muscular Dystrophy (OPMD) is a hereditary muscle disorder characterized by progressive weakness of the muscles controlling the eyelids (oculo-) and the throat (pharyngeal). It ...
Chronic Progressive External Ophthalmoplegia (CPEO)
Chronic Progressive External Ophthalmoplegia (CPEO) is a mitochondrial myopathy characterized by slowly progressive, bilateral ptosis (drooping of the eyelids) and ophthalmoplegia (weakness or ...
Richardson’s Syndrome
Richardson’s syndrome, also known as classic progressive supranuclear palsy (PSP-RS), is a rare neurodegenerative disorder characterized by the gradual loss of specific nerve cells in the brain. ...
One-and-a-Half Syndrome
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 an internuclear ophthalmoplegia on ...
Internuclear Ophthalmoplegia
Internuclear ophthalmoplegia (INO) is a neurological disorder characterized by impaired horizontal eye movement due to a lesion in the medial longitudinal fasciculus (MLF), a pair of nerve‐fiber ...
