IllnessAchromatopsia, differential diagnosis

NGS +

Achromatopsia is characterized by the partial or complete absence of color vision. It is also associated with other vision problems, including photophobia, nystagmus and low visual acuity. Affected individuals may also suffer from farsightedness or, less commonly, myopia. These vision problems develop in the first few months of life. Achromatopsia differs from the more common forms of color vision deficiency, in which affected individuals can perceive colors but have difficulty distinguishing between specific colors. Achromatopsia is estimated to affect more than 3/100 000 people worldwide. Complete achromatopsia is more common than incomplete achromatopsia . It results from alterations in one of 6 "core" genes ATF6, CNGA3, CNGB3, GNAT2, PDE6C or PDE6H and is a disorder of the cones in the retina. Mutations in any of these genes prevent the cones from responding appropriately to light, disrupting phototransduction. In people with complete achromatopsia, the cones are non-functional, and vision depends entirely on rod activity. The loss of cone function results in the complete absence of color vision and causes the other visual problems. People with incomplete achromatopsia still have some cone function with limited color vision, and the other vision problems are usually less severe. Some patients have neither been found to have mutations in any of the known core genes nor the other nearly 30 genes tob e considered in the differential diagnostics. This disorder is inherited in an autosomal recessive manner. The molecular genetic diagnostic yield can reach 90%. But a negative DNA test result does not exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1418/

• 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)