Clinical heterogeneity between two Japanese siblings with congenital achromatopsia

Visual Neuroscience

Volumn 21, Issue 3, 2004, Pages 413-420

  Hayashi, Takaaki ^a   Kozaki, Kenichi ^a   Kitahara, Kenji ^a   Kubo, Akiko ^a   Nishio, Yoshiteru ^a   Omoto, Satoshi ^a   Nakamura, Yosuke ^a   Watanabe, Akira ^a   Toda, Kazushige ^a   Ueoka, Yasuo ^a  

^a JIKEI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Autosomal recessive inheritance; Color vision; Electroretinography; Genetics; Stationary retinal disorder

Indexed keywords

AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CLINICAL FEATURE; COLOR BLINDNESS; COLOR DISCRIMINATION; COLOR VISION; CONFERENCE PAPER; CONGENITAL DISORDER; ELECTRORETINOGRAPHY; ENVIRONMENTAL FACTOR; EYE FUNDUS; FEMALE; GENDER; GENE CONTROL; HUMAN; HYPERMETROPIA; MALE; MYOPIA; NYSTAGMUS; PATIENT REFERRAL; PHENOTYPE; PHOTOPHOBIA; PINEAPPLE; PRESCHOOL CHILD; PRIORITY JOURNAL; REFRACTION ERROR; RETINA CONE; RETINA MACULA DEGENERATION; SCHOOL CHILD; SPECTRAL SENSITIVITY; SYMPTOM; VISUAL FIELD; VISUAL IMPAIRMENT;

CHILD; CHILD, PRESCHOOL; COLOR VISION DEFECTS; CONES (RETINA); CONTRAST SENSITIVITY; ELECTRORETINOGRAPHY; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; PEDIGREE; RETINAL DISEASES; RODS (RETINA); SIBLINGS; TIME FACTORS; VISUAL ACUITY;

EID: 8344285046     PISSN: 09525238     EISSN: None     Source Type: Journal    
DOI: 10.1017/S0952523804213396     Document Type: Conference Paper

References (35)

1. ALPERN, M. (1965). π1 Cone monochromatism. Archives of Ophthalmology 74, 334-337.
2. ALPERN, M., FALLS, H.F. & LEE, G.B. (1960). The enigma of typical total monochromacy. American Journal of Ophthalmology 50, 326-342.
3. ALPERN, M., LEE, G.B., MAASEIDVAAG, F. & MILLER, S.S. (1971). Colour vision in blue-cone 'monochromacy'. Journal of Physiology 212, 211-233.
4. ANDREASSON, S. & TORNQVIST, K. (1991). Electroretinograms in patients with achromatopsia. Acta Ophthalmologica 69, 711-716.
5. AYYAGARI, R., KAKUK, L.E., COATS, C.L., BINGHAM, E.L., TODA, Y., FELIUS, J. & SIEVING, P.A. (1999). Bilateral macular atrophy in blue cone monochromacy (BCM) with loss of the locus control region (LCR) and part of the red pigment gene. Molecular Vision 5, 13.
6. BLACKWELL, H.R. & BLACKWELL, O.M. (1957). Blue mono-cone monochromacy: A new color vision defect. Journal of the Optical Society of America 47, 338-344.
7. BLACKWELL, H.R. & BLACKWELL, O.M. (1961). Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia. Vision Research 1, 62-107.
8. CARR, R.E. (2001). Abnormalities of cone and rod function. In Retina, 3 Volume Set, 3rd edition, ed. RYAN, S.J., pp. 471-481. St. Louis, Missouri: Mosby.
9. CRESCITELLI, F. & DARTNALL, H.J. (1953). Human visual purple. Nature 172, 195-197.
10. EKSANDH, L., KOHL, S. & WISSINGER, B. (2002). Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genetics 23, 109-120.
11. FLEISCHMAN, J.A. & O'DONNELL, F.E., JR. (1981). Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus. Archives of Ophthalmology 99, 468-472.
12. GOODMAN, G., RIPPS, M. & SIEGEL, I.M. (1963). Cone dysfunction syndromes. Archives of Ophthalmology 70, 214-231.
13. HAEGERSTROM-PORTNOY, G., SCHNECK, M.E., VERDON, W.A. & HEWLETT, S.E. (1996). Clinical vision characteristics of the congenital achromatopsias. II. Color vision. Optometry and Vision Science 73, 457-465.
14. HANSEN, E. (1990). Clinical aspects of achromatopsia. In Night Vision: Basic, Clinical and Applied Aspects, Chapter 9, ed. HESS, R.F., SHARPE, L.T. & NORDBY, K., pp. 316-334. Cambridge, UK: Cambridge University Press.
15. KANDATSU, A. & KITAHARA, K. (1993). The visual characteristics of a case of Pigmentfarbenanomalie. In Colour Vision Deficiencies XI, ed. DRUM, B., pp. 113-117. Netherlands: Kluwer Academic Publishers.
16. KOHL, S., MARX, T., GIDDINGS, I., JÄGLE, H., JACOBSON, S.G., APFELSTEDTSYLLA, E., ZRENNER, E., SHARPE, L.T. & WISSINGER, B. (1998). Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nature Genetics 19, 257-259.
17. KRANDA, K. & KING-SMITH, RE. (1979). Detection of coloured stimuli by independent linear systems. Vision Research 19, 733-745.
18. KRILL, A.E. (1977). Congenital color vision defects. In Krill's Hereditary Retinal and Choroidal Diseases, Vol. II. Clinical Characteristics, ed. KRILL, A.E. & ARCHER, D.B., pp. 355-390. Hagerstown: Harper and Row.
19. KRILL, A.E., DEUTMAN, A.F. & FISHMAN, M. (1973). The cone degenerations. Documenta Ophthalmologica 35, 1-80.
20. NATHANS, J., DAVENPORT, C.M., MAUMENEE, I.H., LEWIS, R.A., HEJTMANCIK, J.F., LITT, M., LOVRIEN, E., WELEBER, R., BACHYNSKI, B., ZWAS, F., KLINGAMAN, R. & FISHMAN, G. (1989). Molecular genetics of human blue cone monochromacy. Science 245, 831-838.
21. NORDSTRÖM, S. & POLLAND, W. (1980). Different expression of one gene for congenital achromatopsia with amblyopia in Northern Sweden. Human Heredity 30, 122-128.
22. PEACHEY, N.S., ALEXANDER, K.R. & FISHMAN, G.A. (1987). Rod and cone system contributions to oscillatory potentials: An explanation for the conditioning flash effect. Vision Research 27, 859-866.
23. POKORNY, J, SMITH, V.C. & VERRIEST, G. (1979). Congenital color defects. In Congenital and Acquired Color Vision Defects, ed. POKORNY, J., SMITH, V.C., VERRIEST, G. & PINCKERS, A.J., pp. 183-241. New York: Grune & Stratton.
24. POKORNY, J., SMITH, V.C., PINCKERS, A.J. & COZUNSEN, M. (1982). Classification of complete and incomplete autosomal recessive achromatopsia. Graefe's Archive for Clinical and Experimental Ophthalmology 219, 121-130.
25. SHARPE, L.T. & NORDBY, K. (1990). The photoreceptors in the achromat. In Night Vision: Basic, Clinical and Applied Aspects, Chapter 10, ed. HESS, R.F., SHARPE, L.T. & NORDBY, K., pp. 335-389. Cambridge, UK: Cambridge University Press.
26. SHARPE, L.T., STOCKMAN, A., JÄGLE, H., KNAU, H. & NATHANS, J. (1999a). L, M and L-M hybrid cone photopigments in man: Deriving lambda max from flicker photometric spectral sensitivities. Vision Research 39, 3513-3525.
27. SHARPE, L.T., STOCKMAN, A., JÄGLE, H. & NATHANS, J. (1999b). Opsin genes, cone photopigments, color vision, and color blindness. In Color Vision: From Genes to Perception, ed. GEGENFURTNER, K. & SHARPE, L.T., pp. 3-52. Cambridge, UK: Cambridge University Press.
28. SIMUNOVIC, M.P. & MOORE, A.T. (1998). The cone dystrophies. Eye 12 (Pt. 3b), 553-565.
29. SMITH, V.C. & POKORNY, J. (1980). Cone dysfunction syndromes defined by colour vision. In Colour Vision Deficiencies V, ed. VERRIEST, G., pp. 69-82. Bristol, UK: Adam Hilger.
30. SMITH, V.C., POKORNY, J. & NEWELL, F.W. (1978). Autosomal recessive incomplete achromatopsia with protan luminosity function. Ophthalmologica 177, 197-207.
31. SMITH, V.C., POKORNY, J. & NEWELL, F.W. (1979). Autosomal recessive incomplete achromatopsia with deutan luminosity. American Journal of Ophthalmology 87, 393-402.
32. VOKE-FLETCHER, J. (1978). Congenital rod monochromatism in a brother and sister. Modern Problems in Ophthalmology 19, 236-237.
33. WAARDENBURG, P. (1963). Achromatopsia congenita. In Genetics and Ophthalmology, Vol. II, ed. WAARDENBURG, P., FRANCESCHETTI, A. & KLEIN, D., pp. 1695-1718. Netherlands: Royal van Gorcum, Assen.
34. WALD, G. & BROWN, P.K. (1958). Human rhodopsin. Science 127, 222-226.
35. WISSINGER, B., GAMER, D., JÄGLE, H., GIORDA, R., MARX, T., MAYER, S., TIPPMANN, S., BROGHAMMER, M., JURKLIES, B., ROSENBERG, T., JACOBSON, S.G., SENER, E.C., TATLIPINAR, S., HOYNG, C.B., CASTELLAN, C., BITOUN, P., ANDREASSON, S., RUDOLPH, G., KELLNER, U., LORENZ, B., WOLFF, G., VERELLEN-DUMOULIN, C., SCHWARTZ, M., CREMERS, F.P., APFELSTEDT-SYLLA, E., ZRENNER, E., SALATI, R., SHARPE, L.T. & KOHL, S. (2001). CNGA3 mutations in hereditary cone photoreceptor disorders. American Journal of Human Genetics 69, 722-737.