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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 .
Diagnosis requires exclusion of other neurological, ophthalmological, and systemic conditions. [3] Any cause of optic neuropathy should be ruled out, including demyelinating (MOG antibody disease, multiple sclerosis, and neuromyelitis optica) and systemic disease (diabetic, toxic, nutritional, and infectious causes). [3]
Symptoms for the condition include. [1] Abnormal electroretinogram; Acrokeratosis; Anhidrotic ectodermal dysplasia; Choroideremia; Heat intolerance; High myopia; Horizontal nystagmus; Intellectual disability; Recurrent respiratory infections; Recurrent skin infections; Scapular winging; Unfavorable response of muscle weakness to acetylcholine ...
The diagnosis of POHS is based on the clinical triad of multiple white, atrophic choroidal scars, peripapillary pigment changes (dark spots around optic disc of the eye), and a maculopathy caused by choroidal neovascularization. Completely distinct from POHS, acute ocular histoplasmosis may rarely occur in immunodeficiency. [1] [2]
Learn how to download and install or uninstall the Desktop Gold software and if your computer meets the system requirements.
Iron deficiency can also cause shortness of breath, and amplify the symptoms of any chronic condition, such as depression. It can also have an affect on your mood, ability to focus and sleep quality.
Then, after the elimination period (which usually takes 2-4 weeks), you reintroduce groups and foods back into your diet—one at a time—to discover what triggers symptoms.