Abstract
Two unrelated patients with fundus albipunctatus, each the product of a consanguinous marriage, were studied with reference to their fundus lesions, their physiologic deficit and their vitamin A metabolism.
Both patients showed albipunctate lesions that appeared deep to vessels and either blocked fluorescein or were invisible on angiography. Some of the lesions changed during a 1–2 year observation period. In one patient the lesions showeds a radial arrangement in the fundus. Both patients showed greatly retarded dark adaptation, measured subjectively or with the electroretinogram. Cone as well as rod dysfunction was involved, and subtle abnormalities of the visual fields and of color vision were found. The a- and b-waves of the electroretinogram were both affected by the disease, suggesting an adaptation defect prior to generation of the a-wave. These findings are consistent with the observation of Carr, Ripps & Siegel (1974) that photopigment regeneration is retarded in this disease. Both patients showed normal blood levels of vitamin A, carotene, retinol binding protein, amino acids, proteins and lipoproteins. The administration of therapeutic levels of vitamin A parenterally and orally had no effect on the rate of dark adaptation or the fundus lesions.
This study supports the view that fundus albipunctatus is a stationary recessive disorder which can be defined physiologically by a slow rate of dark adaptation and visual pigment regeneration, and which is clinically separable from progressive dystrophies such as retinitis punctata albescens. The significance of the albipunctate fundus lesions remains unclear. If vitamin A metabolism is involved in fundus albipunctatus, the involvement must be at a local level.
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Aouchiche, M., Boyer, R. & Zetchi, A. De la difficulté du diagnostic entre la rétinopathie ponctuée albescente et le fundus albipunctatus cum hemeralopia.Bull. Soc. Ophtalmol. Fr. 82:573–584 (1969).
Bergsma, D.R., Wiggert, B.N., Funahash, M., Kuwabara, T. & Chader, G.J. Vitamin A receptors in normal and dystrophic human retina.Nature 265:66–67 (1977).
Berson, E.L. & Goldstein, E.B. Recovery of the human early receptor potential during dark adaptation in hereditary retinal disease.Vision Res. 10:219–226 (1970).
Berson, E.L., Gouras, P. & Hoff, M. Temporal aspects of the electroretinogram.Arch. Ophthalmol. 81:207–214 (1969).
Carr, R.E. Congenital stationary nightblindness.Trans. Am. Ophthalmol. Soc. 72:449–487 (1974).
Carr, R.E., Ripps, H. & Siegel, I.M. Visual pigment kinetics and adaptation in fundus albipunctatus. XIth ISCERG Symp. Bad Nauheim 1973. Doc. Opththalmol. Proc. Ser. 4:193–204. Junk, The Hague (1974).
Carr, R.E., Margolis, S. & Siegel, I.M. Fluorescein angiography and vitamin A and oxalate levels in fundus albipunctatus.Am. J. Ophthalmol. 82:549–558 (1976).
Franceschetti, A. & Chome-Bercioux, N. Fundus albipunctatus cum hemeralopia.Ophthalmologica 121:185–193 (1951).
Franceschetti, A. & Dieterle, P. Importance diagnostique et prognostique de l'electroretinogramme (ERG) dans les degenerescences tapeto-retiniennes avec retrecissement du champ visuel et hemeralopie.Confin. Neurol. 14:184–186 (1954).
Franceschetti, A., Dieterle, P., Ammann, F. & Marty, F. Une nouvelle forme de fundus albipunctatus cum hemeralopia.Ophthalmological 145:403–410 (1963).
Franceschetti, A. & François, J. Fundus flavimaculatus.Arch. Ophtalmol. (Paris) 25:505–530 (1965).
Franceschetti, A., François, J. & Babel, J. Chorioretinal heredodegenerations. Charles C. Thomas, Springfield pp.222–250 (1974).
Gouras, P. Electroretinography: some basic principles.Invest. Ophthalmol., 9:557–569 (1970).
Gouras, P., Carr, R.E. & Gunkel, R.D. Retinitis pigmentosa in abetalipoproteinaemia: Effects of vitamin A.Invest. Ophthalmol. 10:784–793 (1971).
Gouras, P. & Chader, G. Retinitis pigmentosa and retinol-binding protein.Invest. Ophthalmol. 13:239–242 (1974).
Gunkel, R.D. & Bornschein, H. Automatic intensity control in testing dark adaptation.Arch. Ophthalmol. 57:681–686 (1957).
Haig, C., Hecht, S. & Patek, A.J. Jr. Vitamin A and rod-cone dark adaptation in cirrhosis of the liver.Science 87:534–536 (1938).
Hayreh, S.S. Segmental nature of the choroidal vasculature.Br. J. Ophthalmol. 59:631–648 (1975).
Hecht, S. & Mandelbaum, J. The relation between vitamin A and dark adaptation.JAMA 112:1910–1916 (1939).
Highman, V.N. & Weale, R.A. Rhodopsin density and visual threshold in retinitis pigmentosa.Am. J. Ophthalmol. 75:822–832 (1973).
Huber, V.O., Franceschetti, A. & Dieterle, P. Zur Differentialdiagnose zwischen Fundus albipunctatus cum Hemeralopia congenita und Oguchi'scher Krankheit.Ophthalmologica 133:283–287 (1957).
Hume, E.M. & Krebs, H.A. Vitamin A requirement of human adults.Med. Res. Counc. Spec. Rep. Ser. (Lond.) 264:1–145 (1949).
Klien, B.A. & Krill, A.E. Fundus flavimaculatus.Am. J. Ophthalmol. 64:3–23 (1967).
Krill, A.E. & Kolk, M.R. Retinitis punctata albescens. A functional evaluation of an unusual case.Am. J. Ophthalmol. 53:450–455 (1962).
Krill, A.E. & Klien, B.A. Flecked retina syndrome.Arch. Ophthalmol. 74:496–508 (1965).
Korner, W.F. & Vollm, J. New aspects of the tolerance of retinol in humans.Int. J. Vitam. Nutr. Res. 45:363–372 (1975).
Lauber, H. Die sogenannte Retinitis punctata albescens.Klin. Monatsbl. Augenheilkd. 48:133–148 (1910).
Levy, N.S. & Toskes, P.P. Fundus albipunctatus and vitamin A deficiency.Am. J. Ophthalmol. 78:926–929 (1974).
Marmor, M.F. Corneal electroretinograms in children without sedation.J. Pediatr. Ophthalmol. 13:112–118 (1976).
Marmor, M.F. Defining fundus albipunctatus. XIVth ISCERG Symp. Louisville, 1976. Doc. Ophthalmol. Proc. Ser. 13: 227–234. Junk, The Hague (1977).
Nettleship, E. A note on the progress of some cases of retinitis pigmentosa and of retinitis punctata albescens.Roy. Lond. Ophthalmol. Hosp. Rep. 19:123–129 (1914).
Salt, H.B., Wolff, O.H., Lloyd, J.K., Fosbrooke, A.S., Cameron, A.H., & Hubble, D.V. On having no beta-lipoprotein.Lancet:325–329 (1960).
Schmidt, S.Y., Berson, E.L. & Hayes, K.C. Retinal degeneration in cats fed casein. I. Taurine deficiency.Invest. Ophthalmol. 15:47–52 (1976).
Smith, B.F., Ripps, H. & Goodman, G. Retinitis punctata albescens.Arch. Ophthalmol. 61:93–101 (1959).
Steinberg, D., Herndon, J.H. Jr., Uhlendorf, B.W., Mize, C.E., Avigan, J. & Milne, G.W.A. Refsum's Disease: nature of the enzyme defect.Science 156:1740–1743 (1967).
Takki, K. Gyrate atrophy of the choroid and retina associated with hyperomithinaemia.Br. J. Ophthalmol. 58:3–23 (1974).
Teng Khoen Hing. Further contribution to the fundus xerophthalmicus.Ophthalmologica 150:219–238 (1965).
Yuemura, M. Ueber eine merkwurdige Augenhintergrundveranderung bei zwei Fallen von idiopathischer Hemeralopie.Klin. Monatsbl. Augenheilkd. 81:471–473 (1928).
Wald, G., Jeghers, H. & Arminio, J. An experiment in human dietary night-blindness.Am. J. Physiol. 123:732–746 (1938).
Zimmerman, W.F., Yost, M.T. & Daemen, F.J.M. Dynamics and functions of vitamin A compounds in rat retina after a small bleach of rhodopsin.Nature 250:66–67 (1974).
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Marmor, M.F. Fundus albipunctatus: A clinical study of the fundus lesions, the physiologic deficit, and the vitamin a metabolism. Doc Ophthalmol 43, 277–302 (1977). https://doi.org/10.1007/BF01569200
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DOI: https://doi.org/10.1007/BF01569200