Alström's Syndrome, Leber's Hereditary Optic Neuropathy, or Retinitis Pigmentosa? A Case of Misdiagnosis

A case of a patient with the Alström syndrome (AS) that was misdiagnosed as Leber's hereditary optic neuropathy or retinitis pigmentosa for 13 years is presented. AS is a rare genetic disorder caused by mutations in the ALMS1 gene. AS may lead to abnormal ciliary formation and function. AS affe...

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Detalles Bibliográficos
Autores principales: Alexopoulos, Palaiologos, Symeonidis, Chrysanthos, Rotsos, Tryfon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10667052/
https://www.ncbi.nlm.nih.gov/pubmed/38022732
http://dx.doi.org/10.1155/2023/9409036

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