Results 141 to 150 of about 9,096 (184)
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Ophthalmic Paediatrics and Genetics, 1992
Genetic, clinical and electrophysiological aspects of albinism are described. Emphasis is placed on electrophysiological features which help to distinguish albinism from other clinical conditions, and on stimulating and recording factors which can affect the clarity of VEP results.
A Kriss
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Genetic, clinical and electrophysiological aspects of albinism are described. Emphasis is placed on electrophysiological features which help to distinguish albinism from other clinical conditions, and on stimulating and recording factors which can affect the clarity of VEP results.
A Kriss
exaly +3 more sources
The Phenotypic Spectrum of Albinism
Ophthalmology, 2018To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual acuity (VA), and to define diagnostic criteria for the white population. We also estimated the prevalence of albinism in The Netherlands.Retrospective cohort study.We investigated the phenotype of 522
Gérard C De Wit +2 more
exaly +6 more sources
Dermatologica, 2009
A female albino with squamous cell carcinoma and schizophrenia is reported. The association of schizophrenia and albinism is exceptionally rare; the observation that schizophrenia is characterised by hypermelanosis is questioned.
M R, Leibowitz, M, Dogliotti, G, Hart
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A female albino with squamous cell carcinoma and schizophrenia is reported. The association of schizophrenia and albinism is exceptionally rare; the observation that schizophrenia is characterised by hypermelanosis is questioned.
M R, Leibowitz, M, Dogliotti, G, Hart
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Current Opinion in Pediatrics, 1999
Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. Recent advances have shown us that mutations in at least seven different genes can cause a reduction in melanin pigment biosynthesis, producing the various associated clinical ...
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Albinism was one of the first genetic diseases to be noted in humans, but until relatively recently, little was known of the molecular mechanisms involved in its pathogenesis. Recent advances have shown us that mutations in at least seven different genes can cause a reduction in melanin pigment biosynthesis, producing the various associated clinical ...
openaire +2 more sources
Human Albinism and Animal Models of Albinism
Pigment Cell Research, 1988Ten phenotypic forms of oculocutaneous albinism (OCA) and four forms of ocular albinism (OA) have been identified in man. All have optic neuronal decussation defects at the optic chiasm. Thus any proposed animal model for these disorders must share optic neuronal decussation defects in addition to hypopigmentation.
CARL J. WITKOP +2 more
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American Journal of Ophthalmology, 1997
The purpose of this investigation was to study vision in albinism from 3 perspectives: first, to determine the characteristics of grating acuity development in children with albinism; second, to study the effect of illumination on grating acuity; and third, to define the effect of melanin pigment in the macula on visual acuity.I.
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The purpose of this investigation was to study vision in albinism from 3 perspectives: first, to determine the characteristics of grating acuity development in children with albinism; second, to study the effect of illumination on grating acuity; and third, to define the effect of melanin pigment in the macula on visual acuity.I.
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Auris Nasus Larynx, 2007
Nasal polyposis is a very common and multifactorial disease. Whereas eosinophil-dominated polyps often are sensitive to anti-inflammatory treatment like corticosteroids, the therapy of polyps without eosinophils is more difficult and disappointing. We report the clinical course of a 29-year-old albino patient suffering from a extreme manifestation of ...
Caversaccio, Marco +2 more
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Nasal polyposis is a very common and multifactorial disease. Whereas eosinophil-dominated polyps often are sensitive to anti-inflammatory treatment like corticosteroids, the therapy of polyps without eosinophils is more difficult and disappointing. We report the clinical course of a 29-year-old albino patient suffering from a extreme manifestation of ...
Caversaccio, Marco +2 more
openaire +4 more sources
Seminars in Cutaneous Medicine and Surgery, 1997
Albinism connotes a large group of genetic disorders that are characterized by diminished ocular and oftentimes cutaneous pigmentation. These disorders are generally subclassified as oculocutaneous albinism (OCA) or ocular albinism (OA) based on the extent of their effects on the pigmentation of the skin and hair.
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Albinism connotes a large group of genetic disorders that are characterized by diminished ocular and oftentimes cutaneous pigmentation. These disorders are generally subclassified as oculocutaneous albinism (OCA) or ocular albinism (OA) based on the extent of their effects on the pigmentation of the skin and hair.
openaire +2 more sources