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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 .
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.
The brain is the central organ of the human nervous system, and with the spinal cord, comprises the central nervous system. It consists of the cerebrum, the brainstem and the cerebellum. The brain controls most of the activities of the body, processing, integrating, and coordinating the information it receives from the sensory nervous system ...
Age-Related Macular Degeneration is a degenerative maculopathy associated with progressive sight loss. It is characterised by changes in pigmentation in the Retinal Pigment Epithelium, the appearance of drusen on the retina of the eye and choroidal neovascularization.
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.