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Chronic progressive external ophthalmoplegia (CPEO) is a type of eye disorder characterized by slowly progressive inability to move the eyes and eyebrows. [1] It is often the only feature of mitochondrial disease, in which case the term CPEO may be given as the diagnosis.
Facioscapulohumeral muscular dystrophy (FSHD) is a type of muscular dystrophy, a group of heritable diseases that cause degeneration of muscle and progressive weakness. Per the name, FSHD tends to sequentially weaken the muscles of the face, those that position the scapula, and those overlying the humerus bone of the upper arm.
Glycogen storage disease type II has an autosomal recessive pattern of inheritance. Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two faulty copies of the gene—one from each parent—are required to be born with the disorder. As with all cases of autosomal recessive ...
Mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is a rare autosomal recessive mitochondrial disease. [2] It has been previously referred to as polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction (POLIP syndrome). [3] The disease presents in childhood, but often goes unnoticed for decades.
This is a partial list of human eye diseases and disorders. The World Health Organization (WHO) publishes a classification of known diseases and injuries, the International Statistical Classification of Diseases and Related Health Problems , or ICD-10.
Adie syndrome, also known as Holmes–Adie syndrome, is a neurological disorder characterized by a tonically dilated pupil that reacts slowly to light but shows a more definite response to accommodation (i.e., light-near dissociation). [1]
Parry–Romberg syndrome (PRS) is a rare disease presenting in early childhood [1] characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. [2]
External signs may include darker coloration, exophthalmia ("pop eye"), pale or red-dotted gills, sunken eyes, and bleeding around orbits (eye sockets) and at base of fins. [20] [21] [44] Genetics researchers at the Lake Erie Research Center at the University of Toledo are developing a test [45] that will speed diagnosis from a month to a ...