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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.
Choriocarcinoma is a malignant, trophoblastic [1] cancer, usually of the placenta. It is characterized by early hematogenous spread to the lungs. It belongs to the malignant end of the spectrum in gestational trophoblastic disease (GTD). It is also classified as a germ cell tumor and may arise in the testis or ovary.
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.
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 .
Cohen syndrome is diagnosed by clinical examination but is often difficult due to variation in expression. Ocular complications, though rare, are listed as optic atrophy, microphthalmia, pigmentary chorioretinitis, hemeralopia (decreased vision in bright light), myopia, strabismus, nystagmus and iris/retinal coloboma.
However, type 1 and type 2 are distinguished by the genes involved, [1] the types of hormones made, and the characteristic signs and symptoms. These disorders greatly increase the risk of developing multiple cancerous and noncancerous tumors in glands such as the parathyroid , pituitary , and pancreas .
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Despite its name, the "presumed" relationship of POHS to Histoplasma capsulatum is controversial and has been questioned by a number of medical professionals. [3] [4] [5] The fungus has rarely been isolated from cases with POHS, [6] [medical citation needed] the condition has also been found in locations where histoplasmosis is rare, [7] and there appears to be a relationship with tobacco smoking.