AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesAnthropology, Education, Sociology and Social PhenomenaGeographicals
Albinism, OculocutaneousAlbinismMonophenol MonooxygenaseHermanski-Pudlak SyndromeHypopigmentationEye ColorAlbinism, OcularMelanosomesNystagmus, PathologicSkin PigmentationMelanocytesMembrane Transport ProteinsPigmentationChediak-Higashi SyndromeElectronystagmographyCatechol OxidaseMelaninsHair ColorPuerto RicoPlatelet Storage Pool DeficiencyAdaptor Protein Complex beta SubunitsMutationPedigreeFolkloreIris DiseasesOxidoreductasesFrameshift MutationNystagmus, CongenitalDNA Mutational AnalysisMembrane GlycoproteinsPolymorphism, Single-Stranded ConformationalHomozygotePhenotypeMembrane ProteinsExons
OcularPigmentationForms of albinismForm of albinismOCA2MutationsType of albinismGeneNystagmusGeneticsPeople with albOCA1ACongenitalHypopigmentationTyrosinaseBleeding diathesisSymptomsProduction of melaninDisorderOCA3Group of inheritedRufousMutationSubtypesImmunodeficiencyHumansAbnormalPREVALENCESyndromeDiagnosisMelanocytesCharacteristicLight-coloredDefectAfricaPartialMelanin synthesisTypesAbnormalitiesCure for albinism
Ocular23
Pigmentation10
  • Oculocutaneous albinism is a group of conditions that affect coloring (pigmentation) of the skin, hair, and eyes. (medlineplus.gov)
  • Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising. (nih.gov)
  • Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. (biomedcentral.com)
  • Prevalence of the different forms of albinism varies considerably worldwide, partly explained by the different founder mutations in different genes and the fact that it can be difficult clinically to distinguish between the different subtypes of albinism among the large normal spectrum of pigmentation. (biomedcentral.com)
  • NEI investigators identified administration of NTBC to subjects (e.g., mice or humans) with certain forms of albinism, can result in increased circulating tyrosine levels, an increase in tyrosinase activity, and, subsequently, increased pigmentation. (nih.gov)
  • Oculocutaneous albinism (OCA) is a clearly defined set of seven types of genetic mutations which reduce or completely prevent the synthesis of eumelanin or pheomelanin , resulting in reduced pigmentation. (wikipedia.org)
  • Albinism is a condition wherein the skin, eyes, and hair of a person is afflicted by a partial or complete loss of pigmentation. (home-remedies-for-you.com)
  • 11. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. (nih.gov)
  • Oculocutaneous Albinism type 2 (OCA2) is a gene of great interest because of genetic variation affecting normal pigmentation variation in humans. (ojp.gov)
  • RESEARCH OBJECTIVES Background Albinism includes a group of genetic disorders that share a reduction in retinal melanin pigmentation and significant visual abnormalities. (nih.gov)
Forms of albinism6
  • The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. (biomedcentral.com)
  • Certain forms of albinism are known to be due to mutations in tyrosine metabolism. (nih.gov)
  • [3] It is a common misconception that all albino animals have characteristic pink or red eyes (resulting from the lack of pigment in the iris allowing the blood vessels of the retina to be visible), however this is not the case for some forms of albinism. (wikipedia.org)
  • Brooks' previous studies have shown that nitisinone has no effect in OCA-1A, where there's no tyrosinase to stabilize, and OCA-3, where a different part of the melanin pathway is affected, so his team doesn't intend to pursue this drug for patients with those forms of albinism. (nih.gov)
  • Prior to a surgical procedure for persons with these rare forms of albinism, specific tests for bleeding dysfunction and white blood cell abnormalities should be performed. (blindchildrenscenter.org)
  • While there are some genes linked to some forms of albinism, other cases, such as Oculocutaneous albinism , have no clear genetic cause. (nih.gov)
Form of albinism6
OCA25
  • Oculocutaneous albinism can result from variants (also known as mutations) in several genes, including TYR , OCA2 , TYRP1 , and SLC45A2 . (medlineplus.gov)
  • Many types of mutations have been identified in the OCA2 gene that results in albinism. (nih.gov)
  • In contrast, OCA2 is the most common type of albinism in African Black OCA patients. (biomedcentral.com)
  • Two flyers, sponsored by ESPCR, dealing with the workshop and with oculocutaneous albinism type 2, OCA2, were distributed to all the participants. (espcr.org)
  • This study examined population genetic variation in and near the Oculocutaneous Albinism type 2 (OCA2) gene from a worldwide perspective. (ojp.gov)
Mutations6
  • Taken together, our data suggest that mutations in DCT can cause a phenotypic spectrum ranging from isolated infantile nystagmus to oculocutaneous albinism. (uni-koeln.de)
  • OCA 1B (yellow mutant OCA, Amish albinism, xanthous albinism) is produced by leaky mutations of the tyrosinase gene that result in reduced/residual enzyme activity. (medscape.com)
  • The phenotypic heterogeneity of albinism is due to the different gene mutations affecting various points along the melanin pathway, resulting in varying degrees of decreased melanin production. (medscape.com)
  • It has been claimed by some, e.g. [5] that albinism can occur for a number of reasons aside from inheritance, including genetic mutations, diet, living conditions, age, disease, or injury. (wikipedia.org)
  • 5. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. (nih.gov)
  • Oculocutaneous albinism (OCA) is a rare inherited disease caused by mutations in genes needed to make melanin, a dark-colored pigment found in hair, skin, and eyes. (nih.gov)
Type of albinism3
Gene7
  • A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. (wikipedia.org)
  • Alterations in the MC1R gene can change the appearance of people with oculocutaneous albinism type 2. (medlineplus.gov)
  • The same study revealed that his albinism was caused by a mutation of the SLC45A2 gene. (wikipedia.org)
  • Snowflake received the recessive gene from both parents, causing his albinism. (wikipedia.org)
  • To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS).Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein sorting 11) gene. (nih.gov)
  • This gene (oculocutaneous albinism) is also known as the human P protein gene or DN10. (snpedia.com)
  • Each parent must carry the gene for this form which follows an autosomal recessive inheritance pattern, meaning there is a one-in-four chance at each pregnancy that the baby will be born with albinism. (blindchildrenscenter.org)
Nystagmus4
  • Nystagmus is also one of the symptoms in oculocutaneus albinism (OCA), a heterogeneous disease mainly caused by defects in melanin synthesis or melanosome biogenesis. (uni-koeln.de)
  • Detailed ophthalmological and orthoptic investigations identified a consanguineous family with two individuals with isolated infantile nystagmus and one family member with subtle signs of albinism. (uni-koeln.de)
  • Patients with albinism experience varying degrees of vision loss associated with foveal hypoplasia, nystagmus, photophobia and/or glare sensitivity, refractive errors, and abnormal decussation of ganglion cell axons at the optic chiasm. (nih.gov)
  • 10 Here, we evaluated the effect of computerized training on visual performance of children with infantile nystagmus (IN) occurring in association with albinism or occurring solitarily without an afferent visual defect (a condition called idiopathic IN). (arvojournals.org)
Genetics4
  • This article provides a historical background on oculocutaneous albinism (OCA) in southern Africa and presents relevant information from the literature regarding epidemiology , genetics and genetic counselling, health , psychosocial and cultural issues, and medical care . (bvsalud.org)
  • Suggested research topics include, but are not limited to studies of: RGC axon misrouting at the midline of the optic chiasm, mechanisms of axon target selection and determinants of pathfinding errors in the brain, pathogenetic links between hypopigmentation and myopia, melanosome biogenesis in the retinal pigment epithelium (RPE), retinal cell trafficking of tyrosinase, or the genetics of albinism syndromes. (nih.gov)
  • This 'disease-in-a-dish' system will help us understand how the absence of pigment in albinism leads to abnormal development of the retina, optic nerve fibers, and other eye structures crucial for central vision ," said Aman George, Ph.D., a staff scientist in the NEI Ophthalmic Genetics and Visual Function Branch, and the lead author of the report. (medicalxpress.com)
  • Animals used to study albinism are less than ideal because they lack foveae," said Brian P. Brooks, M.D., Ph.D., NEI clinical director and chief of the Ophthalmic Genetics and Visual Function Branch. (medicalxpress.com)
People with alb15
  • People with albinism often have lighter colored skin and hair than the other members of their family or ethnic group. (medicalnewstoday.com)
  • Melanin normally protects the skin from damage due to UV radiation exposure, so people with albinism are more sensitive to sun exposure. (medicalnewstoday.com)
  • People with albinism should use sunscreen with an SPF of at least 20 and report any new moles or other skin changes to a doctor. (medicalnewstoday.com)
  • In people with albinism, hair color can range from white to brown. (medicalnewstoday.com)
  • It occurs in every population with varying frequency, and narratives of people with albinism have been recorded since 200 BC. (bvsalud.org)
  • In addition, widespread public awareness programs are required to increase the knowledge of the genetic causes of OCA and of the nature of genetic counselling, to address the negative attitudes in the community , to reduce the marginalization and stigmatization of people with albinism and to improve their quality of life . (bvsalud.org)
  • A person with albinism is often referred to as a an 'albino' and while some forms of the condition can be life threatening, most people with albinism can live a normal life. (home-remedies-for-you.com)
  • However, whereas people with albinism in Europe can concentrate their efforts in the visual handicapping features of albinism, while protecting their skin from the sun with adequate creams and clothes, the absence of these simple materials in Africa makes these individual unfortunately and unnecessarily prone to develop skin cancer, and with fatal consequences if tumors are not treated in time. (espcr.org)
  • Raising positive awareness and advocating for people with albinism https://www.adamlgnevill.com/ultram-pills/ was a common aim for all organizations attending this workshop in Douala. (espcr.org)
  • ALBA and Genespoir, the Spanish and French associations in support of people with albinism, contributed with copies of the book on "Albinism. (espcr.org)
  • French copies of this book with many testimonials by people with albinism from both Europe and Africa were distributed among representative delegates from African associations in support of people with albinism. (espcr.org)
  • The meeting closed with a Gala Dinner where sun protection creams (50+ SPF) generously donated by Avene/Pierre-Fabre laboratory, were distributed among people with albinism participating in this conference and the corresponding associations representing them. (espcr.org)
  • At this Gala Dinner we could enjoy performances by several groups with people with albinism sharing their talent dancing, singing or in a fantastic mannequin parade where a local fashion designer is using them to present his creations. (espcr.org)
  • Because the greatest vision problems for people with albinism occur during the early development of the eye, our eventual goal is to work with infants," said Brian Brooks, M.D., Ph.D., clinical director at NEI and lead author of the study. (nih.gov)
  • People with albinism have absent or reduced pigment in their eyes, skin or hair. (blindchildrenscenter.org)
OCA1A1
  • [6] Type I oculocutaneous albinism (OCA1a) is the form most commonly recognised as 'albino' as this results in a complete absence of melanin in the skin, hair/fur/feathers, and pink pupils, however this has led many to assume that all albinos are pure white with pink pupils, which is not the case. (wikipedia.org)
Congenital4
  • Albinism consists of a group of inherited abnormalities of melanin synthesis and are typically characterized by a congenital reduction or absence of melanin pigment. (medscape.com)
  • Albinism (also called achromia, achromasia, or achromatosis) is a congenital disorder characterized by the complete or partial absence of pigment in the skin, hair and eyes due to absence or defect in any one of a number of proteins involved in the production of melanin. (nih.gov)
  • Albinism is the congenital absence of melanin in an animal or plant resulting in white hair, feathers, scales and skin and reddish pink or blue eyes. (wikipedia.org)
  • The less frequently occurring oculocutaneous albinism (OCA) is a heterogeneous group of congenital, mostly autosomal recessive but occasionally autosomal dominant disorders. (nih.gov)
Hypopigmentation2
Tyrosinase1
  • Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. (nih.gov)
Bleeding diathesis1
  • Hermansky-Pudlak syndrome (HPS) is a rare group of autosomal recessive diseases whose manifestations include oculocutaneous albinism , bleeding diathesis, and lysosomal ceroid accumulation. (medscape.com)
Symptoms4
Production of melanin1
  • Albinism results from defective production of melanin from tyrosine through a complex pathway of metabolic reactions. (medscape.com)
Disorder3
  • Oculocutaneous albinism (OCA) is an autosomal recessive disorder that is the result of a complete lack of or a reduction of melanin biosynthesis in melanocytes. (nih.gov)
  • The disorder is believed to be a part of a disorder called oculocutaneous albinism type 1B. (checkorphan.org)
  • For example, albinism is a disorder affecting both the skin and eyes. (nih.gov)
OCA31
  • When we looked at other species , we were surprised to find the TYRP1 R153C variant responsible for cinnamon U. americanus is identical to one previously described as a cause of oculocutaneous albinism (OCA3) in humans," says Barsh. (scitechdaily.com)
Group of inherited1
Rufous1
  • Type 3, specifically rufous oculocutaneous albinism, has been described primarily in people from southern Africa. (medlineplus.gov)
Mutation3
Subtypes1
Immunodeficiency2
  • The major features include oculocutaneous albinism , immunodeficiency, abnormal bleeding, and lysosomal ceroid storage. (logicalimages.com)
  • Chediak-Higashi syndrome (CHS) is characterized by partial oculocutaneous albinism, immunodeficiency, and a mild bleeding tendency. (nih.gov)
Humans3
Abnormal2
  • The various types of albinism arise from abnormal forms of different, unrelated genes- 100 genes related to albinism have been found in mice. (everything2.com)
  • Therefore, the abnormal axon routing seen in albinism presents an intriguing model system for developmental studies, particularly since the retinal disorganization is often associated with eye movement disorders and the development of myopia. (nih.gov)
PREVALENCE2
  • Albinism can affect anyone, but its prevalence varies by region. (medicalnewstoday.com)
  • Further, increased prevalence of oculocutaneous albinism type 2, keloids and prurigo nodularis is characteristic for African American populations, while cutaneous discoid lupus erythematosus is both significantly more prevalent and more often leads to skin dyspigmentation and scarring alopecia in African Americans. (nih.gov)
Syndrome1
Diagnosis1
  • However, light complexion, blond hair, and blue irides are features frequent among nonalbinotic individuals in a population like that of Northern Europe, thus compromising their significance when it comes to a diagnosis of albinism. (molvis.org)
Melanocytes2
  • In albinism, melanocytes fail to synthesize or distribute melanins properly, which results in oculocutaneous albinism (OCA) presenting with absent or reduced tanning, white, blond, or red-blond scalp, blue irides, and hypopigmented fundi due to a lack of pigments in the skin, hair, and eyes. (molvis.org)
  • Oculocutaneous albinism (OCA) is a group of rare inherited disorders in which a normal number of melanocytes are present but melanin production is absent or greatly decreased. (msdmanuals.com)
Characteristic3
  • A lack of melanin in the retina leads to the vision problems characteristic of oculocutaneous albinism. (medlineplus.gov)
  • and problems with vision that are characteristic of oculocutaneous albinism type 4. (nih.gov)
  • In reality, the most universal characteristic of human albinism is poor eyesight - very few albinos can see perfectly, even with corrective lenses - while only a minority have such a severely affected appearance . (everything2.com)
Light-colored1
  • Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. (medlineplus.gov)
Defect2
  • OCA can be further categorized into Type 1 albinism and Type 2 albinism depending on the type of genetic defect causing the condition. (home-remedies-for-you.com)
  • It is believed that the disease may occur in any organism that produces pigment, for albinism is broadly defined as any genetic defect that causes a body to produce less pigment than normal. (everything2.com)
Africa5
  • In sub-Saharan Africa, albinism affects 1 in every 2,000 to 5,000 people. (medicalnewstoday.com)
  • In southern Africa albinism is common, about 1 in 4000 people are affected, but it remains a poorly understood condition surrounded by myths and superstition . (bvsalud.org)
  • Last week, on 24-25 July, the 1st International Workshop on Oculocutaneous Albinism in Subsaharian Africa took place at the Sawa hotel, in Douala, the economic capital of Cameroon. (espcr.org)
  • This meeting was in many ways unique and exceptionally successful and the organizers must be praised for having managed in bringing to Cameroon many different people with a common interest on albinism in Africa. (espcr.org)
  • Albinism is the same genetic condition present in Europe and Africa, and everywhere else in the world. (espcr.org)
Partial3
  • Heterochromia iridum in a case of partial type 2 oculocutaneous albinism: Case report]. (nih.gov)
  • In plants, albinism is characterised by partial or complete loss of chlorophyll pigments and incomplete differentiation of chloroplast membranes. (wikipedia.org)
  • Snowflake's great-grandson N'Kou has pink fingers, which is perhaps suggestive of partial albinism. (wikipedia.org)
Melanin synthesis2
  • Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. (wikipedia.org)
  • Albinism is a recessively inherited disease of disturbed melanin synthesis and/or melanin distribution in the epidermis, scalp, uvea, and retinal pigment epithelium. (molvis.org)
Types6
Abnormalities1
  • Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. (medlineplus.gov)
Cure for albinism1