Cargando…
Reappearance of the tapetal-like reflex after prolonged dark adaptation in a female carrier of RPGR ORF15 X-linked retinitis pigmentosa
PURPOSE: To report changes in the tapetal-like reflex in a female carrier of RPGR ORF15 c.3395delA X-linked retinitis pigmentosa (XLRP) between examinations at 16 and 22 years of age, and to report the observation that the tapetal-like reflex faded due to exposure to daylight and reappeared with pro...
Autores principales: | Bregnhøj, Jesper, Al-Hamdani, Sermed, Sander, Birgit, Larsen, Michael, Schatz, Patrik |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063355/ https://www.ncbi.nlm.nih.gov/pubmed/24959064 |
Ejemplares similares
-
A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration?
por: Schatz, Patrik, et al.
Publicado: (2012) -
The carboxyl terminal mutational hotspot of the ciliary disease protein RPGR(ORF15) (retinitis pigmentosa GTPase regulator) is glutamylated in vivo
por: Rao, Kollu N., et al.
Publicado: (2016) -
Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia
por: Parmeggiani, Francesco, et al.
Publicado: (2016) -
RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP)
por: Moreno-Leon, Laura, et al.
Publicado: (2020) -
Rd9 Is a Naturally Occurring Mouse Model of a Common Form of Retinitis Pigmentosa Caused by Mutations in RPGR-ORF15
por: Thompson, Debra A., et al.
Publicado: (2012)