Oligocone trichromacy: Clinical and molecular genetic investigations

Investigative Ophthalmology and Visual Science

Volumn 51, Issue 1, 2010, Pages 89-95

  Andersen, Mette K G ^a   Christoffersen, Nynne L B ^a   Sander, Birgit ^b   Edmund, Carsten ^b   Larsen, Michael ^a,b   Grau, Tanja ^c   Wissinger, Bernd ^c   Kohl, Susanne ^c   Rosenberg, Thomas ^a  

^a JOHN F KENNEDY INSTITUTE   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AUTOFLUORESCENCE; CHILD; CLINICAL ARTICLE; CNGA3 GENE; CNGB3 GENE; COLOR VISION TEST; CONTROLLED STUDY; ELECTRORETINOGRAPHY; EYE PHOTOGRAPHY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENOTYPE; GNAT2 GENE; HETEROZYGOSITY; HUMAN; INTRON; KCNV2 GENE; MALE; OLIGOCONE TRICHROMACY; OPTICAL COHERENCE TOMOGRAPHY; PDE6C GENE; PERIMETRY; PHENOTYPE; PHOTOPHOBIA; PRIORITY JOURNAL; RETINA DISEASE; SCHOOL CHILD; VISUAL ACUITY; COLOR VISION; COLOR VISION DEFECT; CONGENITAL NYSTAGMUS; EYE DISEASE; FLUORESCENCE ANGIOGRAPHY; GENETICS; MIDDLE AGED; NUCLEOTIDE SEQUENCE; PATHOLOGY; PHYSIOLOGY; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINA CONE; VISUAL FIELD;

CNGA3 PROTEIN, HUMAN; CNGB3 PROTEIN, HUMAN; CYCLIC NUCLEOTIDE GATED CHANNEL; EYE PROTEIN; GNAI2 PROTEIN, HUMAN; INHIBITORY GUANINE NUCLEOTIDE BINDING PROTEIN; KCNV2 PROTEIN, HUMAN; PDE6C PROTEIN, HUMAN; PHOSPHODIESTERASE VI; VOLTAGE GATED POTASSIUM CHANNEL;

ADULT; CHILD; COLOR PERCEPTION TESTS; COLOR VISION; COLOR VISION DEFECTS; CYCLIC NUCLEOTIDE PHOSPHODIESTERASES, TYPE 6; CYCLIC NUCLEOTIDE-GATED CATION CHANNELS; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; EYE DISEASES, HEREDITARY; EYE PROTEINS; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; GTP-BINDING PROTEIN ALPHA SUBUNIT, GI2; HUMANS; MALE; MIDDLE AGED; NYSTAGMUS, CONGENITAL; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POTASSIUM CHANNELS, VOLTAGE-GATED; RETINAL CONE PHOTORECEPTOR CELLS; RETINAL DISEASES; TOMOGRAPHY, OPTICAL COHERENCE; VISUAL ACUITY; VISUAL FIELDS;

EID: 75749144714     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.09-3988     Document Type: Article

References (24)

1. Van Lith GHM. General cone dysfunction without achromatopsia. In: Pearlman JT, ed. 10th ISCERG Symposium. Documenta Ophthalmologica Proceedings Series. Amsterdam: Kluwer Academic Publishers; 1973;175-180.
2. Keunen JEE, De Brabandere SRS, Liem ATA. Foveal densitometry and color mathing in oligocone trichromacy. In: Drum B, Moreland JD, Serra A, eds. 12th IRGCVD Symposium, Colour Vision Deficiencies XII. Amsterdam: Kluwer Academic Publishers; 1995:203-210.
3. Michaelides M, Hunt DM, Moore AT. The cone dysfunction syndromes. Br J Ophthalmol. 2004;88:291-297.
4. Marmor MF, Fulton AB, Holder GE, Miyake Y, Brigell M, Bach M. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118(1):69-77.
5. Rosenberg T, Baumann B, Kohl S, Zrenner E, Jorgensen AL, Wissinger B. Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations. Invest Ophthalmol Vis Sci. 2004;45:4256-4262.
6. Gupta G, Donahue JP, You T. Profile of the retina by optical coherence tomography in the pediatric age group. Am J Ophthalmol. 2007;144:309-310.
7. Sundin OH, Yang JM, Li Y, et al. Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000;25:289-293.
8. Wissinger B, Gamer D, Jagle H, et al. CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet. 2001;69: 722-737.
9. Kohl S, Baumann B, Broghammer M, et al. Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMPgated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000;9:2107-2116.
10. Kohl S, Baumann B, Rosenberg T, et al. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002;71:422-425.
11. Kohl S, Varsanyi B, Antunes GA, et al. CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005;13:302-308.
12. Kohl S, Marx T, Giddings I, et al. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998;19: 257-259.
13. Nishiguchi KM, Sandberg MA, Gorji N, Berson EL, Dryja TP. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat. 2005;25:248-258.
14. Michaelides M, Holder GE, Bradshaw K, Hunt DM, Mollon JD, Moore AT. Oligocone trichromacy: a rare and unusual cone dysfunction syndrome. Br J Ophthalmol. 2004;88:497-500.
15. Alexander KR, Fishman GA. Supernormal scotopic ERG in cone dystrophy. Br J Ophthalmol. 1984;68:69-78.
16. Jalkanen R, Bech-Hansen NT, Tobias R, et al. A novel CACNA1F gene mutation causes Aland Island eye disease. Invest Ophthalmol Vis Sci. 2007;48:2498-2502.
17. Mansergh F, Orton NC, Vessey JP, et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina. Hum Mol Genet. 2005;14:3035-3046.
18. Ehlich P, Sadowski B, Zrenner E. "Oligocone" trichromacy, a rare form of incomplete achromatopsia (in German). Ophthalmologe. 1997;94:801-806.
19. Kellner U, Wissinger B, Kohl S, Kraus H, Foerster MH. Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes (in German). Ophthalmologe. 2004;101:830-835.
20. Neuhan T, Krastel H, Jaeger W. Differential diagnosis of typical and atypical congenital achromatopsia. In: Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromacy (general cone dysfunction without achromatopsia), both of which at first had been diagnosed as achromatopsia. Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1978:209:19-28.
21. Barthelmes D, Sutter FK, Kurz-Levin MM, et al. Quantitative analysis of OCT characteristics in patients with achromatopsia and blue-cone monochromatism. Invest Ophthalmol Vis Sci. 2006;47: 1161-1166.
22. Pinckers A, Deutman AF. Peripheral cone disease. Ophthalmologica. 1977;174:145-150.
23. Trankner D, Jagle H, Kohl S, et al. Molecular basis of an inherited form of incomplete achromatopsia. J Neurosci. 2004;24: 138-147.
24. Vedantham V, Kanungo S. Defective vision due to oligocone trichromacy in a young adult. Indian J Ophthalmol. 2006;54:289-290.