Abstract
We studied color vision in 32 patients with autosomal recessive achromatopsia. Color matching revealed complete achromatopsia (rod monochromacy) in ten patients (Group I) and incomplete achromatopsia in the remaining twenty-two patients. Amongst the incomplete achromats, were three groups distinguishable by their color matching. Patients in Group II were dichromats; their color matches were mediated by rods and MWS (middle-wavelength sensitive) cones. Patients in Groups III and IV were trichromats. Color matches of patients in Group III were mediated by rods, LWS (long-wavelength sensitive) cones and MWS cones. Group III patients showed no evidence of SWS (short-wavelength sensitive) cones. Color matches of patients in Group IV were mediated by rods, LWS cones and SWS cones; color matching did not reveal MWS cones.
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References
Crone RA (1965) Inkomplette achromatopsie mit rohrförmigen Gesichtsfeldern. Ber Dtsch Ophthalmol Ges 66: 176–180
Franceschetti A, Jaeger W, Klein D, Ohrt V, Rickli H (1958) Etude pathophysiologique et génétique de la grande famille d'achromates de l'île de fur (Denmark) (Description d'une nouvelle famille avec achromatopsie totale chez le fils aîné et achromatopsie incomplète chez le frère cadet). XVIII Concilium Ophthalmologicum. Belgica II: 1582–1588
François J, Verriest G (1959) Contribution á l'étude des dyschromatopsies congénitales à symptomes intermédiaries entre ceux des systèmes dichromatiques classiques et ceux de l'achromatopsie typique: Observation personnelle et revue de la litterature. Ann Oculist (Paris) 192: 8–1120
François J, Verriest G, De Rouck A (1955) L'achromatopsie congenitale. Doc Ophthalmol 9: 338–424
Jaeger W (1959) Systematische Untersuchungen über „inkomplette“ angeborene totale Farbenblindheit. (Eine „Zwischenform“ Zwischen angeborener totaler Farbenblindheit und Protanopie). Graefes Arch Ophthalmol 150: 509–528
Jaeger W (1951) Gibt es Kombinationsformen der verschiedenen Typen angeborener Farbensinnstörung. Graefes Arch Ophthalmol 151: 229–248
Jaeger W (1953) Typen der inkompletten Achromatopsie. Ber Dtsch Ophthalmol Ges 58: 44–47
Krastel H, Jaeger W, Blankenagel A (1981) Nachweis von Resten eines Rot-Rezeptors unter chromatischer Adaptation bei Patienten mit zunächst typisch erscheinender angeborener totaler Farbenblindheit. Ber Dtsch Ophthalmol Ges 78: 717–726
Lanthony P (1978) The new color test. Doc Ophthalmol 46: 191–199
Linksz A (1964) An essay on color vision and clinical color-vision tests. New York, Grune & Stratton
van Lith GHM (1973) General cone dysfunction without achromatopsia. X ISCERG Symposium, Los Angeles 1972. Doc Ophthalmol Proc Series 2: 175–180
Moreland JD, Kerr J (1979) Optimization of a Rayleigh-type equation for the detection of tritanomaly. Vision Res 19: 1369–1375
Neuhann T, Krastel H, Jaeger W (1978) Differential diagnosis of typical and atypical congenital achromatopsia. Graefes Arch Ophthalmol 209: 19–28
Nordstrom S, Polland W (1980) Different expressions of one gene for congenital achromatopsia with amblyopia in northern Sweden. Hum Hered 20: 122–128
van Norren D, de Vries-de Mol E (1981) An incomplete achromat of the deutan type. Doc Ophthalmol 51: 365–372
Pinckers A (1972) Achromatopsie congénitale. Ann Oculist (Paris) 205: 821–834
Pinckers A (1978) Lanthony's New Color Test — part I. Ophthalmologica 77: 204–291
Pokorny J, Smith VC, Verriest G, Pinckers AJLG (1979) Congenital and Acquired Color Vision Defects. New York, Grune & Stratton, Inc
Pokorny J, Smith VC, Went L (1981) Color matching in autosomal dominant tritan defect. J Opt Soc Am 71: 1327–1334
Siegel I, Graham C, Ripps H, Hsia Y (1966) Analysis of photopic and scotopic function in an incomplete achromat. J Opt Soc Am 56: 699–704
Smith VC, Pokorny J, Newell FW (1978) Autosomal recessive incomplete achromatopsia with protan luminosity. Ophthalmologica 177: 197–207
Smith VC, Pokorny J, Newell FW (1979) Autosomal recessive incomplete achromatopsia with deutan luminosity. Am J Ophthalmol 87: 393–402
Smith VC, Pokorny J, Delleman JW, Cozijnsen M, Houtman WA, Went LN (in press) X-linked incomplete achromatopsia with more than one class of functional cones. Invest Ophthalmol Vis Sci
Verriest G (1979) Les déficiences de la vision des couleurs. Société d' ophthalmologie de Bordeaux et du Sud-Ouest. Réunion du dimanche, pp 901–927
Waardenburg PJ (1969) Achromatopsia congenita. In: Waardenburg PJ, Franceschetti A, Klein D (eds) Genetics and ophthalmology, vol 2. Assen, Netherlands, Royal van Gorkum, pp 1696–1718
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Bartimeus School for the Visually Handicapped
Supported in part by USPHS NIH Research Grants EY 00901 (Pokorny), EY 01876 (Smith), and by a grant from ZWO, the Dutch Organization for the Advancement of Pure Research (Pokorny)
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Pokorny, J., Smith, V.C., Pinckers, A.J.L.G. et al. Classification of complete and incomplete autosomal recessive achromatopsia. Graefe's Arch Clin Exp Ophthalmol 219, 121–130 (1982). https://doi.org/10.1007/BF02152296
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DOI: https://doi.org/10.1007/BF02152296