Hostname: page-component-8448b6f56d-t5pn6 Total loading time: 0 Render date: 2024-04-19T17:47:56.756Z Has data issue: false hasContentIssue false
  • English
  • Français

Clinical heterogeneity between two Japanese siblings with congenital achromatopsia

Published online by Cambridge University Press:  05 April 2005

TAKAAKI HAYASHI ,
KENICHI KOZAKI ,
KENJI KITAHARA ,
AKIKO KUBO ,
YOSHITERU NISHIO ,
SATOSHI OMOTO ,
YOSUKE NAKAMURA ,
AKIRA WATANABE ,
KAZUSHIGE TODA  and
YASUO UEOKA
TAKAAKI HAYASHI
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
KENICHI KOZAKI
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
KENJI KITAHARA
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
AKIKO KUBO
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
YOSHITERU NISHIO
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
SATOSHI OMOTO
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
YOSUKE NAKAMURA
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
AKIRA WATANABE
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
KAZUSHIGE TODA
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
YASUO UEOKA
Affiliation:
Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
Get access Rights & Permissions [Opens in a new window]

Abstract

Congenital achromatopsia is a stationary retinal disorder with autosomal recessive inheritance. It is characterized by significant attenuation of cone-photoreceptor function. Symptoms include photophobia, nystagmus, and poor visual acuity from birth. Unlike in cone or cone–rod dystrophies, the retinal fundus usually appears normal. Here we describe two siblings with congenital achromatopsia, who exhibit different ophthalmic phenotypes. History was taken, and ophthalmic examinations were performed in a 7-year-old girl and her 5-year-old brother, who were referred to our department because of poor visual acuity. Two of their grandparents were brother and sister, suggesting an autosomal recessive transmission in inheritance. They have been followed for more than 13 years since the initial evaluation. Symptoms, visual acuity, and kinetic visual field were very similar to each other, consistent with findings of typical congenital achromatopsia. However, color-vision tests suggested that the brother had residual color discrimination, but the sister did not. The siblings had different full-field electroretinographic and spectral-sensitivity findings: residual cone functions were detected in only the brother, in agreement with his residual color vision. They also had different findings of retinal fundi and ocular refractions: the sister had bilaterally atrophic-appearing macular lesions and myopic errors. In contrast, the brother remains hyperopia and has exhibited no specific retinal findings until age 18 years. The causes why both complete and incomplete achromats occur in the siblings are uncertain but might be caused by modifying effects of sex-related genes or by environmental factors influencing certain gene regulations in cone photoreceptors.

Keywords

Stationary retinal disorderGeneticsAutosomal recessive inheritanceColor visionElectroretinography
Type
Research Article
Information
Visual Neuroscience , Volume 21 , Issue 3 , May 2004 , pp. 413 - 420
Copyright
© 2004 Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

REFERENCES

Alpern, M. (1965). π1 Cone monochromatism. Archives of Ophthalmology 74, 334–337.Google Scholar
Alpern, M., Falls, H.F., & Lee, G.B. (1960). The enigma of typical total monochromacy. American Journal of Ophthalmology 50, 326–342.Google Scholar
Alpern, M., Lee, G.B., Maaseidvaag, F., & Miller, S.S. (1971). Colour vision in blue-cone ‘monochromacy’. Journal of Physiology 212, 211–233.Google Scholar
Andreasson, S. & Tornqvist, K. (1991). Electroretinograms in patients with achromatopsia. Acta Ophthalmologica 69, 711–716.Google Scholar
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.Google Scholar
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.Google Scholar
Blackwell, H.R. & Blackwell, O.M. (1961). Rod and cone receptor mechanisms in typical and atypical congenital achromatopsia. Vision Research 1, 62–107.Google Scholar
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.
Crescitelli, F. & Dartnall, H.J. (1953). Human visual purple. Nature 172, 195–197.Google Scholar
Eksandh, L., Kohl, S., & Wissinger, B. (2002). Clinical features of achromatopsia in Swedish patients with defined genotypes. Ophthalmic Genetics 23, 109–120.Google Scholar
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.Google Scholar
Goodman, G., Ripps, M., & Siegel, I.M. (1963). Cone dysfunction syndromes. Archives of Ophthalmology 70, 214–231.Google Scholar
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.Google Scholar
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.
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.
Kohl, S., Marx, T., Giddings, I., Jägle, H., Jacobson, S.G., Apfelstedt-Sylla, 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.Google Scholar
Kranda, K. & King-Smith, P.E. (1979). Detection of coloured stimuli by independent linear systems. Vision Research 19, 733–745.Google Scholar
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.
Krill, A.E., Deutman, A.F., & Fishman, M. (1973). The cone degenerations. Documenta Ophthalmologica 35, 1–80.Google Scholar
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.Google Scholar
Nordström, S. & Polland, W. (1980). Different expression of one gene for congenital achromatopsia with amblyopia in Northern Sweden. Human Heredity 30, 122–128.Google Scholar
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.Google Scholar
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.
Pokorny, J., Smith, V.C., Pinckers, A.J., & Cozijnsen, M. (1982). Classification of complete and incomplete autosomal recessive achromatopsia. Graefe's Archive for Clinical and Experimental Ophthalmology 219, 121–130.Google Scholar
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.
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.Google Scholar
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.
Simunovic, M.P. & Moore, A.T. (1998). The cone dystrophies. Eye 12 (Pt. 3b), 553–565.Google Scholar
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.
Smith, V.C., Pokorny, J., & Newell, F.W. (1978). Autosomal recessive incomplete achromatopsia with protan luminosity function. Ophthalmologica 177, 197–207.Google Scholar
Smith, V.C., Pokorny, J., & Newell, F.W. (1979). Autosomal recessive incomplete achromatopsia with deutan luminosity. American Journal of Ophthalmology 87, 393–402.Google Scholar
Voke-Fletcher, J. (1978). Congenital rod monochromatism in a brother and sister. Modern Problems in Ophthalmology 19, 236–237.Google Scholar
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.
Wald, G. & Brown, P.K. (1958). Human rhodopsin. Science 127, 222–226.Google Scholar
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.Google Scholar