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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 ...
Leber's hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision; it predominantly affects adult males, and onset is more likely in younger adults.
A growing body of evidence has shown links between cancer and drinking alcohol. In a warning Friday, U.S. Surgeon General Vivek Murthy said cancer risk increases with the number of drinks, but ...
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.
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.