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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 .
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]
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The parahippocampal gyrus (or hippocampal gyrus [1]) is a grey matter cortical region of the brain that surrounds the hippocampus and is part of the limbic system. The region plays an important role in memory encoding and retrieval. It has been involved in some cases of hippocampal sclerosis. [2] Asymmetry has been observed in schizophrenia. [3]
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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.