Search results
Results from the WOW.Com Content Network
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 .
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 ...
Before gene testing was available, the type and location of tumors determined which type of MEN2 a person had. Gene testing now allows a diagnosis before tumors or symptoms develop. [citation needed] Comparison of main types of multiple endocrine neoplasia. A table in the multiple endocrine neoplasia article compares the various MEN syndromes ...
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 .
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.
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.
However, the disease can seem to re-present a second time with further vision loss due to the early onset of presbyopia symptoms (i.e., difficulty in viewing objects up close). [1] DOA is characterized as affecting neurons called retinal ganglion cells (RGCs). This condition is due to mitochondrial dysfunction mediating the death of optic nerve ...