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  2. Neuropathy, ataxia, and retinitis pigmentosa - Wikipedia

    en.wikipedia.org/wiki/Neuropathy,_ataxia,_and...

    Neuropathy, ataxia, and retinitis pigmentosa, also known as NARP syndrome, is a rare disease with mitochondrial inheritance that causes a variety of signs and symptoms chiefly affecting the nervous system [1] Beginning in childhood or early adulthood, most people with NARP experience numbness, tingling, or pain in the arms and legs (sensory neuropathy); muscle weakness; and problems with ...

  3. Retinitis pigmentosa - Wikipedia

    en.wikipedia.org/wiki/Retinitis_pigmentosa

    Retinitis pigmentosa (RP) is a member of a group of genetic disorders called inherited retinal dystrophy (IRD) that cause loss of vision. [1] Symptoms include trouble seeing at night and decreasing peripheral vision (side and upper or lower visual field). [ 1 ]

  4. Kearns–Sayre syndrome - Wikipedia

    en.wikipedia.org/wiki/Kearns–Sayre_syndrome

    Retinitis pigmentosa, mid stage. Kearns and Sayre described patients with "pigmentary degeneration" on funduscopy, night vision abnormalities, and some histologic similarities, but also clinical differences, to retinitis pigmentosa [2] Subsequently, the retinal phenotype of KSS was described as retinitis pigmentosa, atypical retinitis pigmentosa, tapetoretinal degeneration, salt-and-pepper ...

  5. Hereditary motor and sensory neuropathy - Wikipedia

    en.wikipedia.org/wiki/Hereditary_motor_and...

    Neuropathy disorders usually have onset in childhood or young adulthood. Motor symptoms seem to be more predominant than sensory symptoms. [2] Symptoms of these disorders include: fatigue, pain, lack of balance, lack of feeling, lack of reflexes, and lack of sight and hearing, which result from muscle atrophy.

  6. Retinitis - Wikipedia

    en.wikipedia.org/wiki/Retinitis

    Retinitis is inflammation of the retina in the eye, which can permanently damage the retina and lead to blindness. The retina is the eye's "sensing" tissue. Retinitis may be caused by a number of different infectious agents. Its most common form, called retinitis pigmentosa, has a prevalence of one in every 2,500–7,000 people.

  7. Refsum disease - Wikipedia

    en.wikipedia.org/wiki/Refsum_disease

    Onset is most commonly in childhood or adolescence with a progressive course, although periods of stagnation or remission do occur. Symptoms include ataxia; dry, scaly skin; difficulty hearing; and eye problems, including retinitis pigmentosa, cataracts, and night blindness. [9]

  8. Ocugen (OCGN) Q4 2024 Earnings Call Transcript - AOL

    www.aol.com/finance/ocugen-ocgn-q4-2024-earnings...

    Retinitis pigmentosa affects 300,000 people in the U.S. and EU combined and 1.6 million globally and is associated with mutations in more than 100 genes. ... including no cases of ischemic optic ...

  9. Ardalan–Shoja–Kiuru syndrome - Wikipedia

    en.wikipedia.org/wiki/Ardalan–Shoja–Kiuru...

    In addition to the classic manifestations of Finnish type Familial Amyloidosis, cutis laxa, progressive peripheral neuropathy and corneal lattice dystrophy, some of the affected members of the Iranian family have retinitis pigmentosa. [2] [3] This feature had not been previously reported with this type of amyloidosis. Ardalan–Shoja–Kiuru ...

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