Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

Fundus albipunctatus (FA) is a rare, congenital form of night blindness with rod system impairment, characterised by the presence of numerous small, white-yellow retinal lesions. FA belongs to a heterogenous group of so-called flecked retina syndromes. This disorder shows autosomal recessive inherit...

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Detalles Bibliográficos
Autores principales: Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Human Genetics • Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543405/
https://www.ncbi.nlm.nih.gov/pubmed/25820994
http://dx.doi.org/10.1007/s13353-015-0281-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4543405/
https://www.ncbi.nlm.nih.gov/pubmed/25820994
http://dx.doi.org/10.1007/s13353-015-0281-x

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