[Clinical and genetic aspects of albinism]. 2017

Benoit Arveiler, and Eulalie Lasseaux, and Fanny Morice-Picard
CHU de Bordeaux, service de génétique médicale, 33076 Bordeaux, France; Laboratoire maladies rares, génétique et métabolisme, Inserm U1211, 33076 Bordeaux, France. Electronic address: benoit.arveiler@chu-bordeaux.fr.

Albinism is a genetic disease affecting 1/17,000 person worldwide. It constitutes the second cause of congenital loss of visual acuity after optic atrophy. Albinism is heterogeneous both at the clinical and genetic levels. It is characterized by ocular development anomalies and by a variable degree of hypopigmentation. Clinically, three forms of the disease are described: oculocutaneous, ocular and syndromic (Hermansky-Pudlak syndrome, Chediak-Higashi syndrome). Nineteen genes involved in the different types of albinism have been described so far. The broad phenotypic variability between the different forms but also within a particular form renders the establishment of phenotype-genotype correlations impossible. A genetic test exploring all 19 genes is necessary to establish the diagnosis and to distinguish between syndromic and non-syndromic forms. We present the creation of an albinism-dedicated Day Hospital at the University Hospital of Bordeaux.

UI MeSH Term Description Entries
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D002609 Chediak-Higashi Syndrome A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle. Chediak-Steinbrinck-Higashi Syndrome,Oculocutaneous Albinism with Leukocyte Defect,Chediak Higashi Syndrome,Chediak Steinbrinck Higashi Syndrome,Chediak-Steinbrinck-Higashi Syndromes
D005820 Genetic Testing Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing. Genetic Predisposition Testing,Genetic Screening,Predictive Genetic Testing,Predictive Testing, Genetic,Testing, Genetic Predisposition,Genetic Predictive Testing,Genetic Screenings,Genetic Testing, Predictive,Predisposition Testing, Genetic,Screening, Genetic,Screenings, Genetic,Testing, Genetic,Testing, Genetic Predictive,Testing, Predictive Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000417 Albinism General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
D014786 Vision Disorders Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132). Hemeralopia,Macropsia,Micropsia,Day Blindness,Metamorphopsia,Vision Disability,Visual Disorders,Visual Impairment,Blindness, Day,Disabilities, Vision,Disability, Vision,Disorder, Visual,Disorders, Visual,Hemeralopias,Impairment, Visual,Impairments, Visual,Macropsias,Metamorphopsias,Micropsias,Vision Disabilities,Vision Disorder,Visual Disorder,Visual Impairments
D020795 Photophobia Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS. Light Sensitivity,Light Sensitivities,Photophobias,Sensitivities, Light,Sensitivity, Light

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