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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-deafness-obesity syndrome This condition is inherited in an X-linked recessive manner. Ayazi syndrome (or Chromosome 21 Xq21 deletion syndrome ) [ 1 ] is a syndrome characterized by choroideremia , congenital deafness and obesity .
A 2013 study [9] by Nasser et al. found that the retinal dopaminergic response to eating a brownie is equivalent in magnitude to the response to a 20 mg dose of methylphenidate, which implies that the activity of dopamine neurons in the retina reflects brain dopaminergic activity.
This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system.
Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome or dystrophia retinae dysacusis syndrome, [1] is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment.
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Rab proteins geranylgeranyltransferase component A 2 is an enzyme that in humans is encoded by the CHML gene. [5] [6]The product of the CHML gene supports geranylgeranylation of most Rab proteins and may substitute for REP-1 in tissues other than retina.
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 ...