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  2. Choroideremia - Wikipedia

    en.wikipedia.org/wiki/Choroideremia

    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.

  3. Ayazi syndrome - Wikipedia

    en.wikipedia.org/wiki/Ayazi_syndrome

    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 .

  4. Leber's hereditary optic neuropathy - Wikipedia

    en.wikipedia.org/wiki/Leber's_hereditary_optic...

    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.

  5. Kjer's optic neuropathy - Wikipedia

    en.wikipedia.org/wiki/Kjer's_optic_neuropathy

    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 ...

  6. Hypohidrotic ectodermal dysplasia - Wikipedia

    en.wikipedia.org/wiki/Hypohidrotic_ectodermal...

    Actor Michael Berryman displays outward symptoms of the condition. Most people with hypohidrotic ectodermal dysplasia have a reduced ability to sweat (hypohidrosis) because they have fewer sweat glands than normal or their sweat glands do not function properly. Sweating is a major way that the body controls its temperature; as sweat evaporates ...

  7. Maculopathy - Wikipedia

    en.wikipedia.org/wiki/Maculopathy

    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.

  8. Usher syndrome - Wikipedia

    en.wikipedia.org/wiki/Usher_syndrome

    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.

  9. List of human disease case fatality rates - Wikipedia

    en.wikipedia.org/wiki/List_of_human_disease_case...

    Human infectious diseases may be characterized by their case fatality rate (CFR), the proportion of people diagnosed with a disease who die from it (cf. mortality rate).It should not be confused with the infection fatality rate (IFR), the estimated proportion of people infected by a disease-causing agent, including asymptomatic and undiagnosed infections, who die from the disease.