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[Dark adaptation in achromats (mathematical analysis) (author's transl)].

The integral dark adaptation curves of 10 complete acromats, 4 incomplete achromats and 11 normal subjects were compared using regression analysis. Neither in achromats nor in normal subjects a kink could be proven by this method. The final threshold of the mean dark adaptation curve of the complete achromats is slightly elevated. This may be explained by the fact that the group comprised 6 children.

Color Vision Defects↗

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 diagnosed as achromatopsia.

Report on two patients whose symptoms suggested the presence of congenital achromatopsia. In one case there was indeed total colour blindness, but a normal photopic ERG. Here, achromatopsia is the present stage in a process of slow functional decay of the central retina. Most probably the underlying disorder is progressive foveal dystrophy, a central form of cone dystrophy. In the other case there was a nonrecordable photopic ERG, but trichromatic colour vision. This appears to be another patient with oligo-cone trichromasy (general cone dysfunction without achromatopsia), as described by Van Lith.

Adult↗

Pure homonymous hemiachromatopsia. Findings with neuro-ophthalmologic examination and imaging procedures.

The study describes neuro-ophthalmologic findings in two patients with brain infarction who developed homonymous hemiachromatopsia with resolution to pure homonymous achromatopsia in an upper quadrant. All other visual parameters were normal; only color perimetry was capable of demonstrating the visual disorder. The results are presented with special emphasis on the macular region. Computed tomography studies and magnetic resonance imaging revealed lesions in the caudal and medial occipitotemporal gyri as well as in adjacent cortical regions. The lesions were secondary to disordered circulation in a proximal occipitotemporal branch of the posterior cerebral artery. The anatomical findings and functional relations of color vision in man are discussed in the light of animal findings.

Adult↗

Inbreeding in recessive diseases.

The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibrosis: 1.4% cystinosis: 7.1% nephronophtisis: 5.6% spinal muscular atrophy: 4.5% albinism: 5.0% achromatopsia: 12.5% (Albinism and spinal muscular atrophy are heterogeneous conditions). The increase in the frequency of first cousin marriage relative to that of the general population is much greater, as expected, in cystinosis, which is a rare disease, than in cystic fibrosis, which is the most frequent recessive disorder in France. Inbreeding in cystinosis and cystic fibrosis was also studied by computing the distance between parental birth places. This distance is smaller in cystinosis than in cystic fibrosis.

Albinism↗

Peculiar findings in a family with keratodermia palmo-plantaris papulosa Buschke-Fischer-Brauer.

A family is described in which eight cases of autosomal dominantly inherited keratodermia palmo-plantaris papulosa were found in three generations. The propositus and his brother suffered simultaneously from deuteranopia and deuteranomalia. The propositus was operated on for gastric and duodenal ulcers; his brother, as well as his eldest son, had radiologically confirmed duodenal ulcers. Moreover, some members of the family had different inherited anomalies. The significance of these signs is unknown. The definition of the concept of the focal character of phenotypic expression of the pathologic gene is given. According to our histologic and ultrastructural investigations, as well as our study of the available literature, keratodermia palmo-plantaris papulosa is a heterogeneous entity.

Aged↗

Berson test for blue cone monochromatism.

The Berson test for blue cone monochromatism discriminates X-linked blue cone monochromatism from achromatopsia but not from X-linked progressive c dystrophy.

Color Perception Tests↗

Cone interaction and color substitution as revealed by pattern ERG.

Transient electroretinograms to a reversing color-contrast checkerboard pattern (P-ERG) were recorded in a protanomalous, a deuteranomalous, and a normal observer. Alternate monochromatic checks were of constant wavelength (630 nm red-531 nm green), while the relative energies were varied systematically. When changing the radiance ratio 630 nm-531 nm of the stimulus, the normal subject exhibited a P-ERG to all stimuli with only a relative amplitude minimum at a distinct radiance ratio, whereas the color-deficient observers failed to show a P-ERG at some color contrast 630 nm-531 nm, the radiance ratio of which was different in the protan and deutan. From the radiance ratio of color contrast for the smallest potential in the normal observer, we conclude that the green- and red-sensitive cone mechanism provides a difference signal which generates the response. The data from the color-deficient observer support the view that color discrimination in protans and deutans is reduced because the input of one type of photoreceptor is missing.

Adolescent↗