scholarly journals Fundus albipunctatus

2020 ◽  
Author(s):  
Keyword(s):  
1992 ◽  
Vol 76 (6) ◽  
pp. 375-379 ◽  
Author(s):  
Y. Miyake ◽  
N. Shiroyama ◽  
S. Sugita ◽  
M. Horiguchi ◽  
K. Yagasaki

10.1038/9707 ◽  
1999 ◽  
Vol 22 (2) ◽  
pp. 188-191 ◽  
Author(s):  
Hiroyuki Yamamoto ◽  
András Simon ◽  
Ulf Eriksson ◽  
Eddie Harris ◽  
Eliot L. Berson ◽  
...  

2008 ◽  
Vol 118 (3) ◽  
pp. 233-238 ◽  
Author(s):  
Manal Hajali ◽  
Gerald A. Fishman ◽  
Thaddeus P. Dryja ◽  
Meredith O. Sweeney ◽  
Martin Lindeman
Keyword(s):  

2019 ◽  
Vol 60 (10) ◽  
pp. 999
Author(s):  
Ki Yup Nam ◽  
Bum Jun Kim ◽  
Ji Hye Kim ◽  
Tae Seen Kang ◽  
Hyun Kyung Cho ◽  
...  
Keyword(s):  

2011 ◽  
Vol 95 (7) ◽  
pp. 1019-1024 ◽  
Author(s):  
S. Naz ◽  
S. Ali ◽  
S. A. Riazuddin ◽  
T. Farooq ◽  
N. H. Butt ◽  
...  

1974 ◽  
Vol 78 (6) ◽  
pp. 926-929 ◽  
Author(s):  
Norman S. Levy ◽  
Phillip P. Toskes

2017 ◽  
Vol 1 (s1) ◽  
pp. 96-98
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for retinitis punctata albescens/fundus albipunctatus (RPA/FA). RPA and FA are reported to have autosomal dominant or autosomal recessive inheritance and are associated with variations in the PRPH2, RHO, RLBP1 and RDH5 genes. There is insufficient data to establish their prevalence. Clinical diagnosis is based on clinical findings, ophthalmological examination, optical coherence tomography, visual field testing and undetectable or severely reduced electroretinogram amplitudes. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.


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