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Achromatopsia 3; ACHM3

Disease ID:23
Name:Achromatopsia 3; ACHM3
Associated with:1 target
Database Links
Disease Ontology: DOID:13911
OMIM: 262300
Orphanet: ORPHA49382


Mutations:  CNGB3 is associated with 40 mutation. Click here for details


No ligand related data available for Achromatopsia 3; ACHM3


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1. Azam M, Collin RW, Shah ST, Shah AA, Khan MI, Hussain A, Sadeque A, Strom TM, Thiadens AA, Roosing S et al.. (2010) Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia. Mol Vis, 16: 774-81. [PMID:20454696]

2. Johnson S, Michaelides M, Aligianis IA, Ainsworth JR, Mollon JD, Maher ER, Moore AT, Hunt DM. (2004) Achromatopsia caused by novel mutations in both CNGA3 and CNGB3. J Med Genet, 41 (2): e20. [PMID:14757870]

3. Khan NW, Wissinger B, Kohl S, Sieving PA. (2007) CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function. Invest Ophthalmol Vis Sci, 48 (8): 3864-71. [PMID:17652762]

4. Kohl S, Baumann B, Broghammer M, Jägle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT et al.. (2000) Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet, 9 (14): 2107-16. [PMID:10958649]

5. Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jägle H, Rosenberg T, Kellner U, Lorenz B, Salati R et al.. (2005) CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet, 13 (3): 302-8. [PMID:15657609]

6. Michaelides M, Aligianis IA, Ainsworth JR, Good P, Mollon JD, Maher ER, Moore AT, Hunt DM. (2004) Progressive cone dystrophy associated with mutation in CNGB3. Invest Ophthalmol Vis Sci, 45 (6): 1975-82. [PMID:15161866]

7. Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. (2005) Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat, 25 (3): 248-58. [PMID:15712225]

8. Okada A, Ueyama H, Toyoda F, Oda S, Ding WG, Tanabe S, Yamade S, Matsuura H, Ohkubo I, Kani K. (2004) Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. Invest Ophthalmol Vis Sci, 45 (7): 2324-32. [PMID:15223812]

9. Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH. (2000) Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet, 25 (3): 289-93. [PMID:10888875]

10. Thiadens AA, Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP et al.. (2010) Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology, 117 (4): 825-30.e1. [PMID:20079539]

11. Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC. (2009) Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology, 116 (10): 1984-9.e1. [PMID:19592100]

12. Varsányi B, Wissinger B, Kohl S, Koeppen K, Farkas A. (2005) Clinical and genetic features of Hungarian achromatopsia patients. Mol Vis, 11: 996-1001. [PMID:16319819]

13. Wiszniewski W, Lewis RA, Lupski JR. (2007) Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet, 121 (3-4): 433-9. [PMID:17265047]