Management of albinism: French guidelines for diagnosis and care. (27th May 2021)

• Record Type: Journal Article
• Authors: Moreno‐Artero, E.; Morice‐Picard, F.; Bremond‐Gignac, D.; Drumare‐Bouvet, I.; Duncombe‐Poulet, C.; Leclerc‐Mercier, S.; Dufresne, H.; Kaplan, J.; Jouanne, B.; Arveiler, B.; Taieb, A.; Hadj‐Rabia, S.
• Is Part Of: Journal of the European Academy of Dermatology and Venereology. Volume 35:Number 7(2021)
• Page Start: 1449
• Page End: 1459
• Publication Date: 2021-05-27
• Subjects: Dermatology -- Periodicals; Sexually transmitted diseases -- Periodicals; 616.5
• DOI: 10.1111/jdv.17275
• Languages: English
• ISSNs: 0926-9959

Abstract

Abstract: Albinism is a worldwide genetic disorder caused by mutations in at least 20 genes, identified to date, that affect melanin production or transport in the skin, hair and eyes. Patients present with variable degrees of diffuse muco‐cutaneous and adnexal hypopigmentation, as well as ocular features including nystagmus, misrouting of optic nerves and foveal hypoplasia. Less often, albinism is associated with blood, immunological, pulmonary, digestive and/or neurological anomalies. Clinical and molecular characterizations are essential in preventing potential complications. Disease‐causing mutations remain unknown for about 25% of patients with albinism. These guidelines have been developed for the diagnosis and management of syndromic and non‐syndromic forms of albinism, based on a systematic review of the scientific literature. These guidelines comprise clinical and molecular characterization, diagnosis, therapeutic approach and management.