ErkrankungAchromatopsie, Differentialdiagnose

NGS +

Farbenblindheit, Nystagmus, Photophobie, erheblich reduzierter Sehschärfe, da die Zapfenfunktion fehlt oder eingeschränkt ist

• Alias: Achromatopsia, ACHM; Total color blindness
• Alias: Complete or incomplete color blindness
• Allelic: Aland Island eye disease (CACNA1F)
• Allelic: Bardet-Biedl syndrome 14 (CEP290)
• Allelic: Bardet-Biedl syndrome 21 (C8orf37)
• Allelic: Bestrophinopathy, AR (BEST1)
• Allelic: Choroidal dystrophy, central areolar 1 (GUCY2D)
• Allelic: Fundus flavimaculatus (ABCA4)
• Allelic: Leber congenital amaurosis 1 (GUCY2D)
• Allelic: Leber congenital amaurosis 10 (CEP290)
• Allelic: Leber congenital amaurosis 4 (AIPL1)
• Allelic: Macular degeneration, age-related, 2 (ABCA4)}
• Allelic: Macular degeneration, age-related, 6 (RAX2)
• Allelic: Macular dystrophy, retinal, 2 (PROM1)
• Allelic: Macular dystrophy, vitelliform, 2 (BEST1)
• Allelic: Meckel syndrome 4 (CEP290)
• Allelic: Microcornea, rod-cone dystrophy, cataract + posterior staphyloma 2 (BEST1)
• Allelic: Microphthalmia, isolated, with coloboma 10 (RBP4)
• Allelic: Night blindness, congenital stationary, incomplete, 2A, XL (CACNA1F)
• Allelic: Night blindness, congenital stationary, type 1I (GUCY2D)
• Allelic: Senior-Loken syndrome 6 (CEP290)
• Allelic: Stargardt disease 1 (ABCA4)
• Allelic: Stargardt disease 4 (PROM1)
• Allelic: Vitreoretinochoroidopathy (BST1)
• Achromatopsia 1 - see Achromatopsia 3 (CNGB3)
• Achromatopsia 2, Rod monochromatism 2 (CNGA3)
• Achromatopsia 3, Pingelapese blindness (CNGB3)
• Achromatopsia 4 (GNAT2)
• Achromatopsia 5 (PDE6C)
• Achromatopsia 6 (PDE6H)
• Achromatopsia 7 (ATF6)
• Alias: Achromatism
• Alias: Rod monochromatism
• Alias: Total color blindness
• Allelic: Immunodeficiency 13 (UNC119)
• Allelic: Leber congenital amaurosis 6 (RPGRIP1)
• Allelic: Macular degeneration, XL atrophic (RPGR)
• Alstrom syndrome (ALMS1)
• Blue cone monochromacy (OPN1LW)
• Blue cone monochromacy (OPN1MW)
• Bradyopsia (RGS9)
• Colorblindness, deutan (OPN1MW)
• Colorblindness, protan (OPN1LW)
• Colorblindness, tritan (OPN1SW)
• Cone dystrophy 4 (PDE6C)
• Cone dystrophy-3 (GUCA1A)
• Cone-rod dystrophy (AIPL1)
• Cone-rod dystrophy (UNC119)
• Cone-rod dystrophy 10 (SEMA4A)
• Cone-rod dystrophy 11 (RAX2)
• Cone-rod dystrophy 12 (PROM1)
• Cone-rod dystrophy 13 (RPGRIP1)
• Cone-rod dystrophy 14 (GUCA1A)
• Cone-rod dystrophy 15 (CDHR1)
• Cone-rod dystrophy 16 (C8orf37)
• Cone-rod dystrophy 18 (RAB28)
• Cone-rod dystrophy 3 (ABCA4)
• Cone-rod dystrophy 6 (GUCY2D)
• Cone-rod dystrophy 9 (ADAM9)
• Cone-rod dystrophy, XL, 1 (RPGR)
• Cone-rod dystrophy, XL, 3 (CACNA1F)
• Cone-rod synaptic disorder, congenital nonprogressive (CABP4)
• Fundus albipunctatus (RDH5)
• Jalili syndrome (CNNM4)
• Joubert syndrome 5 (CEP290)
• Retinal cone dystrophy 3 (PDE6H)
• Retinal cone dystrophy 3B (KCNV2)
• Retinal cone dystrophy 4 (CACNA2D4)
• Retinal dystrophy, early-onset severe (ABCA4)
• Retinal dystrophy, iris coloboma + comedogenic acne syndrome (RBP4)
• Retinitis pigmentosa 19 (ABCA4)
• Retinitis pigmentosa 3 (RPGR)
• Retinitis pigmentosa 35 (SEMA4A)
• Retinitis pigmentosa 41 (PROM1)
• Retinitis pigmentosa 45 (CNGB1)
• Retinitis pigmentosa 50 (BEST1)
• Retinitis pigmentosa 64 (C8orf37)
• Retinitis pigmentosa 65 (CDHR1)
• Retinitis pigmentosa, XL, + sinorespiratory infections +/- deafness (RPGR)
• Retinitis pigmentosa, concentric (BEEST1)
• Retinitis pigmentosa, juvenile (AIPL1)