Classification of Complete and Incomplete Autosomal Recessive Achromatopsia

Overview

Journal Graefes Arch Clin Exp Ophthalmol

Specialty Ophthalmology

Date 1982 Jan 1

PMID 6983472

Citations 19

Authors

J Pokorny

V C Smith

A J Pinckers

M Cozijnsen

Affiliations

Soon will be listed here.

Abstract

We studied color vision in 32 patients with autosomal recessive achromatopsia. Color matching revealed complete achromatopsia (rod monochromasy) 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.

Citing Articles

Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.

Danish E, Alhashem A, Aljehani R, Aljawi A, Aldarwish M, Al Mutairi F Saudi J Ophthalmol. 2023; 37(4):301-306.

PMID: 38155673 PMC: 10752271. DOI: 10.4103/sjopt.sjopt_108_23.

Genetic and Clinical Characterization of Danish Achromatopsia Patients.

Andersen M, Bertelsen M, Gronskov K, Kohl S, Kessel L Genes (Basel). 2023; 14(3).

PMID: 36980963 PMC: 10048638. DOI: 10.3390/genes14030690.

Relatively mild blue cone monochromacy phenotype caused by various haplotypes in the L- and M-cone opsin genes.

Khateb S, Shemesh A, Offenheim A, Sheffer R, Ben-Yosef T, Chowers I Mol Vis. 2022; 28:21-28.

PMID: 35400991 PMC: 8942453.

Clinical and Molecular Characterization of Achromatopsia Patients: A Longitudinal Study.

Brunetti-Pierri R, Karali M, Melillo P, Di Iorio V, De Benedictis A, Iaccarino G Int J Mol Sci. 2021; 22(4).

PMID: 33562422 PMC: 7914547. DOI: 10.3390/ijms22041681.

Retinal Cyclic Nucleotide-Gated Channels: From Pathophysiology to Therapy.

Michalakis S, Becirovic E, Biel M Int J Mol Sci. 2018; 19(3).

PMID: 29518895 PMC: 5877610. DOI: 10.3390/ijms19030749.

References

Moreland J, Kerr J . Optimization of a Rayleigh-type equation for the detection of tritanomaly. Vision Res. 1979; 19(12):1369-75. DOI: 10.1016/0042-6989(79)90209-8. View

Smith V, Pokorny J, NEWELL F . Autosomal recessive incomplete achromatopsia with deutan luminosity. Am J Ophthalmol. 1979; 87(3):393-402. DOI: 10.1016/0002-9394(79)90083-7. View

Smith V, Pokorny J, DELLEMAN J, Cozijnsen M, Houtman W, Went L . X-linked incomplete achromatopsia with more than one class of functional cones. Invest Ophthalmol Vis Sci. 1983; 24(4):451-7. View

Smith V, Pokorny J, NEWELL F . Autosomal recessive incomplete achromatopsia with protan luminosity function. Ophthalmologica. 1978; 177(4):197-207. DOI: 10.1159/000308767. View

Jaeger W . [On the existence of various compound forms of congenital color blindness; protanopia, deuteranopia and tritanopia in the same family, with two instances of non-allelomorphic compounds]. AMA Arch Ophthalmol. 2014; 151(3-4):229-48. View

Pokorny J, Smith V, Went L . Color matching in autosomal dominant tritan defect. J Opt Soc Am. 1981; 71(11):1327-34. DOI: 10.1364/josa.71.001327. View

Siegel I, Graham C, Ripps H, Hsia Y . Analysis of photopic and scotopic function in an incomplete achromat. J Opt Soc Am. 1966; 56(5):699-704. DOI: 10.1364/josa.56.000699. View

NORDSTROM S, Polland W . Different expressions of one gene for congenital achromatopsia with amblyopia in Northern Sweden. Hum Hered. 1980; 30(2):122-8. DOI: 10.1159/000153114. View

Francois J, VERRIEST G . [Congenital dyschromatopsia with intermediary symptoms between that of classic dichromatic systems & that of typical achromatopsia; personal observation & review of literature]. Ann Ocul (Paris). 1959; 192(2):81-120. View

10.

Crone R . [Incomplete achromatopia with tubular visual fields]. Ber Zusammenkunft Dtsch Ophthalmol Ges. 1965; 66:176-81. View

11.

Pinckers A . [Congenital achromatopsia]. Ann Ocul (Paris). 1972; 205(7):821-34. View

12.

Neuhann T, Krastel H, Jaeger W . Differential diagnosis of typical and atypical congenital achromatopsia. Analysis of a progressive foveal dystrophy and a nonprogressive oligo-cone trichromasy (general cone dysfunction without achromatopsia), both of which at first had been.... Albrecht Von Graefes Arch Klin Exp Ophthalmol. 1978; 209(1):19-28. DOI: 10.1007/BF00419159. View

13.

van Norren D, De Vries-De Mol E . A case of incomplete achromatopsia of the deutan type. Doc Ophthalmol. 1981; 51(4):365-72. DOI: 10.1007/BF00143338. View

14.

Jaeger W . [Investigations on the classification of "incomplete" congenital achromatopsia; a form intermediate between congenital achromatopsia and protanopia]. Albrecht Von Graefes Arch Ophthalmol. 2014; 150(5-6):509-28. View

15.

Lanthony P . The new color test. Doc Ophthalmol. 1978; 46(1):191-9. DOI: 10.1007/BF00174108. View

16.

Francois J, VERRIEST G, DE ROUCK A . Congenital achromatopsia. Doc Ophthalmol. 1955; 9(2):338-424. View