Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

Oculocutaneous albinism is an autosomal recessive disorder characterized by the presence of typical ocular features, such as foveal hypoplasia, iris translucency, hypopigmented fundus oculi and reduced pigmentation of skin and hair. Albino patients can show significant clinical variability; some ind...

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Detalles Bibliográficos
Autores principales: Rocca, Camilla, Tiberi, Lucia, Bargiacchi, Sara, Palazzo, Viviana, Landini, Samuela, Marziali, Elisa, Caputo, Roberto, Tinelli, Francesca, Marchi, Viviana, Benedetto, Alessandro, Pagliazzi, Angelica, Bacci, Giacomo Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317384/
https://www.ncbi.nlm.nih.gov/pubmed/35887175
http://dx.doi.org/10.3390/ijms23147825

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9317384/
https://www.ncbi.nlm.nih.gov/pubmed/35887175
http://dx.doi.org/10.3390/ijms23147825

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