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Choroideremia (/ k ɒ ˌ r ɔɪ d ɪ ˈ r iː m i ə /; CHM) is a rare, X-linked recessive form of hereditary retinal degeneration that affects roughly 1 in 50,000 males. The disease causes a gradual loss of vision, starting with childhood night blindness , followed by peripheral vision loss and progressing to loss of central vision later in life.
Choroideremia is caused by a loss-of-function mutation in the CHM gene which codes for Rab escort protein (REP-1). REP-1 and REP-2 (a REP-1 like protein) both help with the prenylation and transport of Rab proteins. [6] Rab27 has been found to preferentially depend on REP-1 for prenylation, which could be the underlying cause of choroideremia. [7]
Chronic relapsing inflammatory optic neuropathy (CRION) is a form of recurrent optic neuritis that is steroid responsive and dependent. [1] Patients typically present with pain associated with visual loss. [1]
Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [1]
It is a fragile portion of the brain that may be damaged leading to a germinal matrix hemorrhage (grade 1 intraventricular hemorrhage). Location/anatomy: The germinal matrix is next to the lateral ventricles (the "inside" of the brain). Function/physiology: Neurons and glia migrate radially outward from the germinal matrix towards the cerebral ...
Intraocular hemorrhage is classified based on the location of the bleeding: Hyphema (in the anterior chamber); Suprachoroidal hemorrhage (SCH) is a rare complication of intraocular surgery in which blood from the ciliary arteries enters the space between the choroid and the sclera.
Cerebral infarction, also known as an ischemic stroke, is the pathologic process that results in an area of necrotic tissue in the brain (cerebral infarct). [1] In mid to high income countries, a stroke is the main reason for disability among people and the 2nd cause of death. [2]
Information about the structure and function of the human brain comes from a variety of experimental methods, including animals and humans. Information about brain trauma and stroke has provided information about the function of parts of the brain and the effects of brain damage. Neuroimaging is used to visualise the brain and record brain ...