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Results 1 - 10 of 10 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 ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find symptoms and other information ...
    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. Kearns-Sayre Syndrome From the National Institutes of Health (National Center for Advancing Translational Sciences)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases ... National Center for Advancing Translational Sciences ... From the ...
    https://rarediseases.info.nih.gov/.../6817/kearns-sayre-syndrome - External Health Links
  4. 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
  5. Incontinentia Pigmenti From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Skin Pigmentation Disorders/Specifics ... Skin Pigmentation Disorders ... Genetic and Rare Diseases Information Center ... From the National Institutes of Health ... Find ...
    https://rarediseases.info.nih.gov/.../6778/incontinentia-pigmenti - External Health Links
  6. 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
  7. Mitochondrial Disorders From the National Institutes of Health (National Institute of Neurological Disorders and Stroke)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Genetic Brain Disorders/Specifics ... Genetic Brain Disorders ... Muscle Disorders/Specifics ... Muscle Disorders
    https://www.ninds.nih.gov/.../disorders/mitochondrial-disorders - External Health Links
  8. 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
  9. 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
  10. GPR143 gene 
    ... a protein that is involved in the coloring (pigmentation) of the eyes and skin. This protein is made in the light-sensitive tissue at the back of the eye (the retina) and in skin cells. The GPR143 protein is ...
    https://medlineplus.gov/genetics/gene/gpr143 - Genetics