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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.
Recently, central serous chorioretinopathy has been understood to be part of the pachychoroid spectrum. [5] [6] In pachychoroid spectrum disorders, of which CSR represents stage II, the choroid, the highly vascularized layer below the retina, is thickened and congested with increased blood vessel diameter, especially in the deep choroid (the so-called Haller's layer).
In October 2011, the first clinical trial was announced for the treatment of choroideremia. [12] Dr. Robert MacLaren of the University of Oxford, who lead the trial, co-developed the treatment with Dr. Miguel Seabra of the Imperial College, London. This Phase 1/2 trial used subretinal AAV to restore the REP gene in affected patients. [13]
Polypoidal choroidal vasculopathy (PCV) is an eye disease primarily affecting the choroid.It may cause sudden blurring of vision or a scotoma in the central field of vision.
Choroideremia; Dystrophy, choroidal (central areolar) (generalized) (peripapillary) Gyrate atrophy, choroid. Excludes: ornithinaemia ( E72.4 ) (H31.3) Choroidal haemorrhage and rupture Choroidal haemorrhage: NOS (Not Otherwise Specified) expulsive (H31.4) Choroidal detachment (H31.8) Other specified disordes of choroid (H31.9) Disorder of ...
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.
Cherry red spot in a person with central retinal artery occlusion. Central retinal artery occlusion is characterized by painless, acute vision loss in one eye. [1] Upon fundoscopic exam, one would expect to find: cherry-red spot (90%) (a morphologic description in which the normally red background of the choroid is sharply outlined by the swollen opaque retina in the central retina), retinal ...
Focal choroidal excavation (FCE) is a concavity in the choroidal layer of the eye without posterior staphyloma or scleral ectasia, that can be detected by optical coherence tomography. [1]