|1.||Deeb, Samir S: 2 articles (05/2004 - 01/2003)|
|2.||Seeliger, M W: 1 article (03/2014)|
|3.||Tanimoto, N: 1 article (03/2014)|
|4.||Mühlfriedel, R: 1 article (03/2014)|
|5.||Patel, Kirti A: 1 article (07/2005)|
|6.||Ngatchou, Anita N: 1 article (07/2005)|
|7.||Carey, Jannette: 1 article (07/2005)|
|8.||Woch, Gustaw: 1 article (07/2005)|
|9.||Fandino, Richard A: 1 article (07/2005)|
|10.||Tanaka, Jacqueline C: 1 article (07/2005)|
|1.||Night Blindness (Nyctalopia)
|3.||Color Vision Defects (Color Blindness)
03/01/2014 - "The Institute for Ophthalmic Research in Tübingen has now succeeded in curing achromatopsia ACHM2 in an animal model. "
02/01/2002 - "The phenotypic characteristics of cpfl1 mice are similar to those observed in patients with complete achromatopsia (ACHM2, OMIM 216900) and the cpfl1 mutation is the first naturally-arising mutation in mice to cause cone-specific photoreceptor function loss. "
06/01/2002 - "This paper reviews the new finding of LCA from mutations of CRB1 and discusses the molecular basis of X-linked blue monochromacy, autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (complete CSNB), and the enhanced S-cone syndrome from mutation of the developmental gene, NR2E3 at 15q23, which appears to regulate the development of M- and L-cones from S-cones. "
06/01/1999 - "Achromatopsia, or total color blindness (also referred to as "rod monochromacy"), is a severe retinal disorder characterized clinically by an inability to distinguish colors, impaired visual acuity in daylight, photophobia, and nystagmus. "
|4.||Rare Diseases (Rare Disease)
|2.||congenital stationary Night blindness