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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.
Many cases are asymptomatic, however patients many have decreased vision, glare, monocular diplopia or polyopia, and noticeable iris changes. [2] [5] On exam patients have normal to decreased visual acuity, and a "beaten metal appearance" of the corneal endothelium, corneal edema, increased intraocular pressure, peripheral anterior synechiae, and iris changes.
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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 .
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.
Birdshot chorioretinopathy, now commonly named birdshot uveitis or HLA-A29 uveitis, [1] is a rare form of bilateral posterior uveitis affecting both eyes.It causes severe, progressive inflammation of both the choroid and retina.
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs.
Occipital horn syndrome (OHS), formerly considered a variant of Ehlers–Danlos syndrome, [1] is an X-linked recessive mitochondrial and connective tissue disorder.It is caused by a deficiency in the transport of the essential mineral copper, associated with mutations in the ATP7A gene.