Presentation
TEST CHARACTERISTICS 2.1 Analytical sensitivity (proportion of positive tests if the genotype is present) Over 90%. 2.2 Analytical specificity (proportion of negative tests if the genotype is not present) Above 95%. 2.3 Clinical sensitivity (proportion [nature.com]
Skin
- Macula
Varsanyi B, Somfai GM, Lesch B et al (2007) Optical coherence tomography of the macula in congenital achromatopsia. Invest Ophthalmol Vis Sci 48:2249–2253 CrossRef PubMed 13. [springermedizin.de]
Eyes
- Photophobia
Park WL, Sunness JS (2004) Red contact lenses for alleviation of photophobia in patients with cone disorders. Am J Ophthalmol 137:774–775 PubMed Titel Achromatopsie Autoren: Dr. C.M. Poloschek S. [springermedizin.de]
Treatment
For the treatment of abnormal trichromacy, corrective colour filters (Coloryte) with special coating have been developed; their effect on colour vision formed the subject of this study. [oanet.cms.hu-berlin.de]
Etiology
Thiadens AA, Slingerland NW, Roosing S et al (2009) Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology 116:1984–1989, e1981 CrossRef PubMed 5. [springermedizin.de]