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Results 1 - 10 of 11 for Abnormality of retinal pigmentation
  1. Usher Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Usher Syndrome/Learn More ... Usher Syndrome ... Find symptoms and other information about Usher syndrome. ... Genetic and Rare Diseases Information Center ... From the National ...
    https://rarediseases.info.nih.gov/diseases/7843/usher-syndrome - External Health Links
  2. Ocular albinism 
    ... not experience vision loss or other significant eye abnormalities. They may have mild changes in retinal pigmentation that can be detected during an eye examination. ...
    https://medlineplus.gov/genetics/condition/ocular-albinism - Genetics
  3. What Is Mitochondrial Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/...tochondrial_Disease_Fact_Sheet_March_2020.pdf - External Health Links
  4. Coats plus syndrome 
    ... hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called café-au-lait spots.Coats plus syndrome and a disorder called leukoencephalopathy with ... However, researchers recently found that Coats plus syndrome ...
    https://medlineplus.gov/genetics/condition/coats-plus-syndrome - Genetics
  5. Mitochondrial DNA Depletion Syndrome (Alpers' Disease) From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Mitochondrial Diseases/Specifics ... Mitochondrial Diseases ... Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics
    https://www.ninds.nih.gov/...s#mitochondrial-dna-depletion-syndromes - External Health Links
  6. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Mitochondrial Diseases/Start Here ... Mitochondrial Diseases ... Muscle Disorders/Specifics ... Muscle Disorders ... Neuromuscular Disorders/Specifics ... Neuromuscular Disorders
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  7. Leigh Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Degenerative Nerve Diseases/Specifics ... Degenerative Nerve Diseases ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... National Institute of Neurological ...
    https://www.ninds.nih.gov/.../mitochondrial-disorders#leigh-syndrome - External Health Links
  8. Kearns-Sayre Syndrome From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases ... National Institute of Neurological Disorders and Stroke ... From ...
    https://www.ninds.nih.gov/...ondrial-disorders#kearns-sayre-syndrome - External Health Links
  9. Oculocutaneous albinism 
    ... ability of cells to make melanin, which reduces pigmentation in the skin, hair, and eyes. A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous ...
    https://medlineplus.gov/genetics/condition/oculocutaneous-albinism - Genetics
  10. Dyskeratosis congenita 
    ... movement. Another severe variant called Revesz syndrome involves abnormalities in the light-sensitive tissue at the back of the eye (retina) in addition to the other symptoms of dyskeratosis ...
    https://medlineplus.gov/genetics/condition/dyskeratosis-congenita - Genetics
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