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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAchromatopsia, differential diagnosis

Summary

Short information

A curated panel for the comprehensive analysis of practically all known genetic achromatopsia entities; mutations in 6 or 35 genes, respectively, cover the by far most frequent mutations.

ID
AP0060
Number of genes
33 Accredited laboratory test
Examined sequence length
10,5 kb (Core-/Core-canditate-Genes)
82,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ATF62013NM_007348.4AR
CNGA32085NM_001298.3AR
CNGB32430NM_019098.5AR
GNAT21065NM_005272.5AR
PDE6C2577NM_006204.4AR
PDE6H252NM_006205.3AR, AD
ABCA46822NM_000350.3AR
ADAM92460NM_003816.3AR
AIPL11155NM_014336.5AD, AR
ALMS112504NM_015120.4AR
BEST11758NM_004183.4AD, AR
CABP4828NM_145200.5AR
CACNA1F5934NM_005183.4XLR
CACNA2D43414NM_172364.5AR
CDHR12580NM_033100.4AR
CEP2907440NM_025114.4AR
CFAP418624NM_177965.4AR
CNGB1900NM_001135639.2AR
CNNM42328NM_020184.4AR
GUCA1A606NM_001384910.1AD
GUCY2D3312NM_000180.4AD, AR
KCNV21638NM_133497.4AR
OPN1SW1047NM_001385125.1AD
PROM12598NM_006017.3AD, AR
RAB28663NM_004249.4AR
RAX2555NM_032753.4AD
RBP4606NM_006744.4AD, AR
RDH5957NM_002905.5AD, AR
RGS92025NM_003835.4AR
RPGR2448NM_000328.3XL
RPGRIP13861NM_020366.4AR
SEMA4A2286NM_022367.4AR, AD
UNC119723NM_005148.4AD

Informations about the disease

Clinical Comment

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/

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined