dark adaptometry
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2019 ◽  
Vol 8 (3) ◽  
pp. 62
Author(s):  
Wadim Bowl ◽  
Birgit Lorenz ◽  
Knut Stieger ◽  
Silke Schweinfurth ◽  
Kerstin Holve ◽  
...  




2017 ◽  
Vol 1 (s1) ◽  
pp. 32-34
Author(s):  
Andi Abeshi ◽  
Alice Bruson ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
Leonardo Colombo ◽  
...  

Abstract We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for color vision deficiency (CVD). Deuteranopia affects 1 in 12 males and is inherited in an X-linked recessive manner. It is associated with variations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303900) and OPN1MW (OMIM gene: 300821; OMIM disease: 303800) genes. Tritanopia has a prevalence of 1 in 10 000, is inherited in an autosomal dominant manner, and is related to variations in the OPN1SW (OMIM gene: 613522; OMIM disease: 190900) gene. Blue cone monochromatism has a prevalence of 1 in 100 000, is inherited in an X-linked recessive manner and is related to mutations in the OPN1LW (OMIM gene: 300822; OMIM disease: 303700) and OPN1MW (OMIM gene: 300821; OMIM disease: 303700) genes. Clinical diagnosis is based on clinical findings, ophthalmogical examination, family history, electroretingraphy, color vision testing and dark adaptometry. The genetic test is useful for confirming diagnosis, and for differential diagnosis, couple risk assessment and access to clinical trials.



2017 ◽  
Vol 135 (3) ◽  
pp. 195-208
Author(s):  
Jeff Rabin ◽  
Brooke Houser ◽  
Carolyn Talbert ◽  
Rue Patel


2016 ◽  
Vol 16 (12) ◽  
pp. 475
Author(s):  
Rebecca Lawson ◽  
Ainslie Johnstone ◽  
Jeremiah Kelly ◽  
Geraint Rees


2016 ◽  
Vol 57 (1) ◽  
pp. 208 ◽  
Author(s):  
J. Clay Bavinger ◽  
Grace E. Dunbar ◽  
Maxwell S. Stem ◽  
Taylor S. Blachley ◽  
Leon Kwark ◽  
...  


2015 ◽  
Vol 253 (6) ◽  
pp. 965-972 ◽  
Author(s):  
Wadim Bowl ◽  
Knut Stieger ◽  
Birgit Lorenz
Keyword(s):  


2014 ◽  
Vol 55 (5) ◽  
pp. 3149
Author(s):  
Gregory R. Jackson ◽  
Ingrid U. Scott ◽  
Ivana K. Kim ◽  
David A. Quillen ◽  
Alessandro Iannaccone ◽  
...  


2014 ◽  
Vol 55 (3) ◽  
pp. 1427 ◽  
Author(s):  
Gregory R. Jackson ◽  
Ingrid U. Scott ◽  
Ivana K. Kim ◽  
David A. Quillen ◽  
Alessandro Iannaccone ◽  
...  


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