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Achromatopsia with amblyopia

I. A clinical and electroretinographical study of 39 cases

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Abstract

39 patients suffering from congenital achromatopsia were investigated by various methods, including electroretinography, during both light and dark adaptation. This condition was typically expressed by the presence of photophobia, low visual acuity, nystagmus and various degrees of ametropia. The fundus was normal in 9 cases. Most of the other cases showed various macular or foveal abnormalities. 24 patients showed complete absence of color vision, and practically all displayed the ‘scotopic line’ in the Farnsworth Panel D-15 test.

The electroretinogram (ERG) was almost always extinct in light. In the dark, in most patients the ERG displayed the scotopic mechanism solely, but some ERGs indicated subnormal photopic components either at the beginning or during all dark adaptation. This presence of photopic activity in the ERG of achromats was verified by 2 additional experiments. In one, the recovery of the positive wave of four achromats was compared on a percentage scale with that of four normal subjects and found to be similar, although the slightly faster course in achromats indicates less photopic activity than in normals. In the second, the positive amplitudes of the ERGs of 12 achromats with purely scotopic ERGs were recorded at completed dark adaptation as function of increasing stimulus intensities, all above the photopic threshold, and compared with those of 16 normal subjects. The amplitudes increased linearly with the 1.2 log intensity range in both groups, though the slope of the curve of the achromats was 1/4 that of the normals. In another experiment, the positive wave of the ERG, as elicited by light over 5 log units in the scotopic range, was found in an achromat to be of very similar shape as that of a normal, indicating scotopic acitivity to be similar in both subjects.

The fact that, nevertheless, photopic components were not demonstrable in most ERGs, despite present photopic activity, can be explained by the relatively insensitive electrical method coupled with the subnormality of the retinal photopic mechanism in every achromat.

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References

  • aguilar, m. & w. S.stiles. Saturation of the rod mechanism of the retina at high levels of stimulation. Optica Acta. 1: 59–65 (1954).

    Article  Google Scholar 

  • alpern, m., h. f.fallsg. B.lee. The enigma of typical total monochromacy. Am. J. Ophthal. 50: 326–341 (1960).

    Article  Google Scholar 

  • alpern, m., g. b.leeb. e.spivey. π1 cone monochromatism. Arch. Opthhal. 74, 334–337 (1965).

    Article  CAS  Google Scholar 

  • auerbach, E. Violet receptor. In Mechanisms of Colour Discrim. Proc. Int. Symp. Paris 1958, pp. 177–182. Pergamon Press (1960).

  • — L'électrorétinogramme photopique de l'homme. Symp. Jubilaire Jacques Daviel, Marseille, pp, 93–105, Nov. (1962).

    Google Scholar 

  • — The human electroretinogram in the light and during dark adaptation. Doc. Ophthal. 22: 1–71 (1967).

    Article  CAS  Google Scholar 

  • — The value of the different components for clinical electroretinography. ISCERG Symp. Ghent 1966, pp. 162–173, S. Karger, Basel/New York (1968).

    Google Scholar 

  • — I. Electrophysiological Examination (Electroretinography and Electro-oculography). II. Clinical application of bioelectrical tests. In Textbook of the Fundus of the Eye by a. j.ballantyne & i. C.michaelson, I. pp. 22–39, 49–50. II. pp. 512–542. E. & S. Livingstone, Edinburgh & London (1970).

    Google Scholar 

  • — v.godel & h.rowe. An electroretinographical and psychophysical study of two forms of congenital night blindness. Invest. Ophthal. 8: 332–345 (1969).

    CAS  PubMed  Google Scholar 

  • — & b.kripke. Some studies of rod-monochromatism. EEG Clin. Neutophysiol. 28: 643 (1970).

    CAS  Google Scholar 

  • — & b.kripke. Achromatopsia with amblyopia. II. A psychophysical study of five cases. Doc. Ophthal. 37 (1): 119–144 (1974).

    Article  CAS  Google Scholar 

  • berson, e. L., p.gouras & r.gunkel. Progressive cone degeneration, dominantly inherited. Arch. Ophthal. 80: 77–83 (1968).

    Article  CAS  PubMed  Google Scholar 

  • blackwell, h. R. & o. m.blackwell. Rod and cone mechanisms in typical and atypical congenital achromatopsia. Vision Res. 1: 62–107 (1961).

    Article  Google Scholar 

  • bornschein, h., o.goodman & r. d.gunkel. Temporal aspects of the human electroretinogram. Arch. Ophthal. 57: 386–392 (1957).

    Article  CAS  Google Scholar 

  • brown, k. T. The electroretinogram: its components and their origins. Vision Res. 8: 633–677 (1968).

    Article  CAS  PubMed  Google Scholar 

  • crampton, g. H. & j. C.armington. Area-intensity relation and retinal location in the human electroretinogram. Am. J. Physiol. 181: 47–53 (1955).

    CAS  PubMed  Google Scholar 

  • creutzfeldt, o., a.rosina, m.ito & w.probst. Visual evoked responses of single cells and of the EEG in primary visual area of the cat. J. Neurophysiol. 32: 127–139 (1969).

    CAS  PubMed  Google Scholar 

  • dawson, g. d. A summation technique for the detection of small evoked potentials. EEG Clin. Neurophysiol. 6: 65–84 (1954).

    Article  CAS  Google Scholar 

  • devoe, r. g., h.ripps & h. G.vaughan Jr. Cortical responses to stimulation of the human fovea. Vision Res. 8: 135–147 (1968).

    Article  CAS  PubMed  Google Scholar 

  • dodt, e., g. H. M.vanlith & b.schmidt. Electroretinographic evaluation of the photopic malfunction in a totally colour blind. Vision Res. 7: 231–241 (1967).

    Article  CAS  PubMed  Google Scholar 

  • —, g. H. M.vanlith & l.wadenstein. The use of flicker electroretinography in the human eye. Acta Ophthal. 32: 165–180 (1954).

    Article  CAS  PubMed  Google Scholar 

  • duke-Elder, s. System of Ophthalmology. Vol. II: The anatomy of the visual system. Henry Kimpton, London, 1961.

    Google Scholar 

  • earll, j. M., b. e.spivey & i. R.mattai. Atypical congenital monochromatism. Arch. Internal Med. 118: 491–493 (1966).

    Article  CAS  Google Scholar 

  • falls, h. f., j. R.wolter & m.alpern. Typical total monochromacy: A histological and psychophysical study. Arch. Ophthal. 74: 610–616 (1965).

    Article  CAS  PubMed  Google Scholar 

  • françois, J. & a. Derouck. Behavior of ERG and EOG in localized retinal destruction by photocoagulation. In Clinical Electroretinography, Proc. 3rd Intern'l Symp., 1964. pp. 191–202. Pergamon Press, 1966.

  • —, g.verriest & a.derouck. L'achromatopsie congénitale. Doc. Ophthal. 9: 338–424 (1955).

    Article  Google Scholar 

  • fuortes, m. G. f., r. d.gunkel & w. A. H.rushton. Increment thresholds in a subject deficient in cone vision. J. Physiol. 156: 179–192 (1961).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • goldschmidt, e., a.ronen & i.ronen. Changing marriage systems in the Jewish communities of Israel. Ann. Human Genetics 24: 191–204 (1960).

    Article  CAS  Google Scholar 

  • goodman, g. & h.bornschein. Comparative electroretinographic studies in congenital night blindness and total color blindness. Arch. Ophthal. 58: 174–182 (1957).

    Article  CAS  Google Scholar 

  • — & g.iser. Physiological studies with flicker electroretinography. Am. J. Ophthal. 42: 212–226 (1956).

    Article  CAS  PubMed  Google Scholar 

  • harrison, r., d.hoefnagel & j. n.hayward. Congenital total color blindness, A clinicopathological report. Arch. Ophthal. 64: 685–692 (1960).

    Article  CAS  PubMed  Google Scholar 

  • johnson, e. P. & l. A.riggs. Electroretinal and psychophysical dark adaptation curves. J. exp. Psychol. 41: 139–147 (1951).

    Article  CAS  PubMed  Google Scholar 

  • krill, a. e. & a. f.deutman. Dominant macular degeneration. The cone dystrophies. Am. J. Ophthal. 73: 352–369 (1972).

    Article  CAS  PubMed  Google Scholar 

  • — — & m.fishmann. The cone degenerations. Doc. Ophthal. 35: 1–80 (1973).

    Article  CAS  Google Scholar 

  • larsen, h. Demonstration mikroskopischer Präparate vom monochromatischen Auge. Verhandl. d. ophthal. Gesellsch. Wien. 8: 101 (1922).

    Google Scholar 

  • merin, s. & e.auerbach. The central and peripheral retina in macular degeneration. Arch. Ophthal. 84: 710–718 (1970).

    Article  CAS  PubMed  Google Scholar 

  • miller, r. f. & j. e.dowling. Intracellular responses of the Müller (glia) cells of mudpuppy retina: their relation to b-wave of the electroretinogram. J. Neurophysiol. 33: 323–341 (1970).

    CAS  PubMed  Google Scholar 

  • motokawa, k. & t.mita. Über eine einfachere Untersuchungsmethode und Eigenschaften der Aktionsströme der Netzhaut des Menschen. Tohoku J. exp. Med. 42: 114–133 (1942).

    Article  Google Scholar 

  • rushton, w. A. H. Rhodopsin measurement and dark adaptation in a subject deficient in cone vision. J. Physiol. 156: 193–205 (1961).

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • sloan, l. L. Congenital achromatopsia: a report of 19 cases. J. Opt. Soc. Amer. 44: 117–128 (1954).

    Article  CAS  Google Scholar 

  • sloan, l. L. The photopic receptors of the typical achromat. Am. J. Ophthal. 46, Pt. II, 81–86 (1958).

    Article  CAS  PubMed  Google Scholar 

  • — & k.feiock. Acuity-luminance function in achromatopsia and in progressive cone degeneration: factors related to individual differences in tolerance to bright light. Invest. Ophthal. 11: 862–868 (1972).

    CAS  PubMed  Google Scholar 

  • spivey, b. e. The X-linked recessive inheritance of atypical monochromatism. Arch. Ophthal. 74: 327–333 (1965).

    Article  CAS  PubMed  Google Scholar 

  • stiles, w. S. Color vision: the approach through increment threshold sensitivity. Proc. Nat. Acad. Sci. 45: 100–114 (1959).

    Article  PubMed Central  Google Scholar 

  • verriest, g., a.buyssens & r.vanderdonck. Etude quantitative de l'effet qu'exerce sur les résultats de quelques tests de la discrimination chromatique une diminution non sélective du niveau d'un éclairage. C. Rev. Opt. 42: 105–119 (1963).

    Google Scholar 

  • vukovich, v.das ERG des Achromaten. Ophthalmologica 124: 354–358 (1952).

    Article  CAS  PubMed  Google Scholar 

  • walls, g. L. & g. G.heath. Typical total color blindness reinterpreted. Acta Ophthal. 32: 253–297 (1954).

    Article  CAS  PubMed  Google Scholar 

  • whitten, d. N. & k. T.brown. The time courses of late receptor potentials from monkey cones and rods. Vision Res. 13: 107–135 (1973).

    Article  CAS  PubMed  Google Scholar 

Download references

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Authors and Affiliations

  1. Jerusalem, Israel

    E. Auerbach M. D. & S. Merin M. D.

  2. The Vision Research Laboratory, Hadassah University Hospital and Medical School, Israel

    S. Merin M. D.

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  1. E. Auerbach M. D.
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  2. S. Merin M. D.
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Supported by Stiftung Volkswagenwerk under contract number 11 1538.

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Auerbach, E., Merin, S. Achromatopsia with amblyopia. Doc Ophthalmol 37, 79–117 (1974). https://doi.org/10.1007/BF00149675

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