scholarly journals Fundus albipunctatus

2020 ◽  
Author(s):  
Keyword(s):  
Fundus Albipunctatus

scholarly journals Fundus albipunctatus associated with cone dystrophy.

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

Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

10.1038/9707 ◽  
1999 ◽  
Vol 22 (2) ◽  
pp. 188-191 ◽  
Author(s):  
Hiroyuki Yamamoto ◽  
András Simon ◽  
Ulf Eriksson ◽  
Eddie Harris ◽  
Eliot L. Berson ◽  
...  
Keyword(s):  
Dark Adaptation ◽  
Retinol Dehydrogenase ◽  
Gene Encoding ◽  
Fundus Albipunctatus

Diagnosis in a patient with fundus albipunctatus and atypical fundus changes

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

scholarly journals Fundus Albipunctatus Diagnosed in a 9-year-old Female

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):  
Fundus Albipunctatus

scholarly journals Mutations in RLBP1 associated with fundus albipunctatus in consanguineous Pakistani families

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

Fundus Albipunctatus and Vitamin a Deficiency

1974 ◽  
Vol 78 (6) ◽  
pp. 926-929 ◽  
Author(s):  
Norman S. Levy ◽  
Phillip P. Toskes
Keyword(s):  
Vitamin A ◽  
Vitamin A Deficiency ◽  
Fundus Albipunctatus

scholarly journals Genetic testing for retinitis punctata albescens/fundus albipunctatus

2017 ◽  
Vol 1 (s1) ◽  
pp. 96-98
Author(s):  
Andi Abeshi ◽  
Pamela Coppola ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Fabiana D’Esposito ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Autosomal Recessive Inheritance ◽  
Field Testing ◽  
Clinical Findings ◽  
Ophthalmological Examination ◽  
Visual Field Testing ◽  
Fundus Albipunctatus ◽  
Retinitis Punctata Albescens

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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