The array of clinical albinism subtypes
BP LEROY
Abstract
BP LEROY
Abstract
Abstract Purpose: To illustrate the different types of clinical subtypes of albinism. Methods: A systematic overview of the different clinical subtypes of albinism will be given. The relationship between the different phenotypes and their respective genotypes will be explained. Results: In general, a distinction is made between ocular albinism and oculocutaneous albinism. The latter can be isolated or syndromic. Examples of syndromic albinism include the Hermansky‐Pudlak and Chediak‐Higashi syndromes. Conclusions: Ocular and oculocutaneous types of albinism exist. The latter can isolated or can be part of syndromic oculocutaneous albinism.
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Abstract Purpose: To illustrate the different types of clinical subtypes of albinism. Methods: A systematic overview of the different clinical subtypes of albinism will be given. The relationship between the different phenotypes and their respective genotypes will be explained. Results: In general, a distinction is made between ocular albinism and oculocutaneous albinism. The latter can be isolated or syndromic. Examples of syndromic albinism include the Hermansky‐Pudlak and Chediak‐Higashi syndromes. Conclusions: Ocular and oculocutaneous types of albinism exist. The latter can isolated or can be part of syndromic oculocutaneous albinism.
Key concepts: Albinism, Oculocutaneous albinism, Hermansky–Pudlak syndrome, Medicine, Genetics, Biology, Pathology, Fibrosis