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ErkrankungAchromatopsie, Differentialdiagnose

Zusammenfassung

Kurzinformation

Ein kuratiertes panel zur umfassenden Untersuchung von praktisch allen bekannten genetisch bedingten Störungen der Achromatopsie; Mutationen in 6 bzw. insgesamt 35 Genen erfassen die weitaus häufigsten Mutationen.

ID
AP0060
Anzahl Gene
35 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
10,5 kb (Core-/Basis-Gene)
84,7 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ATF62013AR
CNGA32085AR
CNGB32430AR
GNAT21065AR
PDE6C2577AR
PDE6H252AD und/oder AR
ABCA46822AR
ADAM92460AR
AIPL11155AD und/oder AR
ALMS112504AR
BEST11758AD und/oder AR
CABP4828AR
CACNA1F5934XL
CACNA2D43414AR
CDHR12580AR
CEP2907440AR und/oder Dig
CFAP418624AR
CNGB1900AR
CNNM42328AR
GUCA1A606AD
GUCY2D3312AD und/oder AR
KCNV21638AR
OPN1LW1095XLR
OPN1MW1095XL
OPN1SW1047AD
PROM12598AD und/oder AR
RAB28663AR
RAX2555AD
RBP4606AD und/oder AR
RDH5957AD und/oder AR
RGS92025AR
RPGR2448XL
RPGRIP13861AR und/oder Ass
SEMA4A2286AD und/oder AR
UNC119723AD

Infos zur Erkrankung

Klinischer Kommentar

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

 

Synonyme
  • 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)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AR
  • AR und/oder Ass
  • AR und/oder Dig
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
H53.5

Bioinformatik und klinische Interpretation

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