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[Cerebral achromatopsia (symptoms, course, differential diagnosis and strategy of the study). I].

To the patient, the sudden onset of cerebral achromatopsia is like switching to black and white on a color TV. As a rule, the defect arises due to bilateral ischemic infarction in the inferior occipitotemporal region. Bilateral upper homonymous quadrantanopsias usually leave the macula more or less unimpaired, so that visual acuity is largely preserved. Prosopagnosia and loss of topographic memory are often associated with central achromatopsia. Investigations of color vision must include color-naming procedures and largefield tests in addition to the conventional methods. Color-naming tasks are indispensable in differentiating cerebral achromatopsia from the aphasic and disconnective types of color anomia. The authors' recommended strategy for investigating color vision relies on records of a case of cerebral achromatopsia obtained six months and two years, respectively, after the onset of symptoms. In addition to the above-mentioned procedures, spectral increment thresholds on white and colored backgrounds were determined. For the first time in cerebral achromatopsia, examinations with large-field spectral matches were performed using the projection anomaloscope. Large-field tests are indispensable for monitoring recovery in cases of central achromatopsia. In the author's patient, recovery of blue-green discrimination was far more complete than that of red-yellow-green discrimination, and for both conditions large-field color vision was far superior to small-field.

Aged

Bishnupur achromats and their relatives (an exploratory study with six colour vision tests).

Thirteen subjects from the 'Sankhabaniks' of Bishnupur and two new similar cases were given six colour vision tests. All had photophobia, fixation nystagmus, low visual acuity and marked, though not complete, loss of colour sense. Forty other males and 24 females related to the defectives were also tested with at least five of the tests, for comparison. The tests were Ishihara, HRR test, Sloan's Achromatopsia test, the Dichotomous (D 15) test, Hundred Hue test and the Pickford-Nicolson Anomaloscope. The present research confirmed the provisional conclusion of Bose et al. (1968) that the achromatopsia in Bishnupur is an autosomal recessive character. That women relatives of the achromats showed greater average error scores with the Dichotomous test, the Hundred Hue test and the Sloan's test than male relatives, suggests that the defect is more readily manifested in males, and that the female relatives would include a number of genetic defectives with incomplete manifestation due to sex control. The defectives were clearly distinguished from the relatives as a group.

Adult

Screening of red-green defects of colour vision with pseudoisochromatic tests.

Fifty red-green defectives and 100 normal subjects were examined with the second edition of the Boström-Kugelberg (BK II, 1972) series and the Ishihara complete edition (1976) of pseudoisochromatic plates. The results are related to those obtained with the first edition of the Boström-Kugelberg test (BK I, 1944) and the Boström test (II B, 1950) and to the classification of defects obtained with the Nagel anomaloscope. The 50 red-green defectives were originally selected by using a combination of the BK I and II B tests. The normal subjects also, passed this preliminary test, as well as an examination with the Nagel anomaloscope. In the final examinations performed under standardized conditions, three red-green defectives passed both the BK II and the BK I test, while eight defectives passed the Ishihara test. Combination of BK II or BK I test with the Ishihara test does not improve the result. Only one defective (a borderline case of protanomaly) passed the separate II B test. Normal subjects were not classified as colour defectives with any of the four pseudoisochromatic tests used. All normal subjects passed both the BK II and the Ishihara test. Classified as suspected red-green defectives (one misreading made in standardized conditions) were five normal subjects with the II B test and one normal subject with the BK I test. In the second edition of Boström-Kugelberg series, the plates numbered 3, 5, 11, 16 and 18 are clearly less effective than respective plates of the first edition. Only the plates numbered 1 and 10 have markedly improved in the second edition. Red-green defectives made on average 0.54 misreadings per plate in the BK II test as compared with respective 0.62 in BK I, 0.69 in the Ishihara and 0.56 in the II B test.

Color Perception Tests

A practical guide for colour-vision examination: report of the Standardization Committee of the International Research Group on Colour-Vision Deficiencies.

There are different types and degrees of colour deficiency and some types of defect occur more frequently than others. Several different techniques are used for examining colour vision and many different tests are available commercially. Clinical tests have three aims: to screen for colour deficiency, to diagnose or classify the type of defect and to grade the severity of the defect. Individual tests do not fulfil all three aims and a test battery is recommended for any detailed colour-vision examination or for giving occupational advice. This paper provides information about congenital and acquired colour-vision defects and lists the principal colour-vision tests. Standardized test methods and viewing conditions are described. The efficiency of each test, for screening, diagnosis and grading is indicated and appropriate test batteries are recommended for different testing requirements.

Color Perception Tests

Proposed protocol for a multi-centre study to compare clinical and trade tests of colour vision in firefighters.

Fire-brigade recruits in the UK have their colour vision screened using the Ishihara test. This is unsatisfactory because it rejects subjects with minor deficiencies in colour vision and does not test for blue defects. The Home Office is currently reviewing its recommendations on visual standards. This paper summarizes defects in colour vision, discusses alternative clinical and trade tests for the fire-brigade, and proposes a multi-centre study to collect data on the performance of fire-brigade recruits in clinical and trade tests.

Clinical Protocols

Atypical vitelliform macular dystrophy in a 5-generation family.

Five generations of a family with autosomal dominant atypical vitelliform macular dystrophy (A-VMD) were studied. This dystrophy is similar to autosomal dominant Best's vitelliform dystrophy (B-VMD) but clinically more closely resembles sporadic pseudovitelliform macular degeneration (P-VMD). Of the family members who were 14 years or older 43 (24 females and 19 males) of the 101 at risk (43%) were affected. Vision varied from 20/20 to 20/200. Field defects and tritan colour defects were invariably present only when vision was less than or equal to 20/200, but these defects were sometimes present when vision was good. The electrooculographic studies (LP/DT ratios) in this family were found to be normal or reduced and did not correlate with visual acuity. Minimal retinal findings consisted of macular or extramacular punctate yellow lesions or both in the retinal pigment epithelium, which were hypofluorescent by angiography, and retinal pigment epithelial defects in the temporal nerve fibre bundle, which were hyperfluorescent by angiography. Fluorescein angiographic changes were invariably present when retinal lesions were noted, and this was the most reliable test in identifying genotypically affected family members with minimal phenotypic expression.

Adolescent

Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.

Tritanopia is an autosomal dominant genetic disorder of human vision characterize by a selective deficiency of blue spectral sensitivity. The defect is manifested within the retina and could be caused by a deficiency in function or numbers (or both) of blue-sensitive cone photoreceptors. We have used PCR, denaturing gradient gel electrophoresis, and DNA sequencing of amplified exons to detect in four of nine unrelated tritanopic subjects two different point mutations in the gene encoding the blue-sensitive opsin, each leading to an amino acid substitution. Segregation analysis within pedigrees and hybridization of oligonucleotides specific for each allele to DNA samples from control subjects support the hypothesis that these mutations cause tritanopia. These results complete the genetic evidence for the trichromatic theory of human color vision.

Arginine

Reversible colour vision defects in obstructive jaundice.

The ocular function of 14 non-alcoholic, high icteric patients with recent occlusion of the common bile duct and 3 patients with viral hepatitis with a cholestatic pattern was studied. By means of a colour vision test panel including the Farnsworth-Munsell 100-hue test, 12 patients were initially classified as colour defective with a pattern of acquired colour vision deficiency (ACVD), predominantly of a tritan type. Visual acuity, visual field, slit lamp microscopy, intraocular pressure, ophthalmoscopy and tear secretion tests were normal, and all patients had normal levels of serum vitamin A. Retesting of 4 initially colour defective patients after disappearance of the obstructive jaundice showed a complete normalisation of the ACVD's. It is concluded, that the colour perception in patients with obstructive jaundice is related to the serum bilirubin level, and not to a deficiency of vitamin A.

Adult

A method for quantitative scoring of the Farnsworth Panel D-15.

The Farnsworth Dichotomous test or Panel D-15 is used extensively for the evaluation of colour discrimination in congenital and acquired colour vision defects. This qualitative assessment of colour vision defect type and severity is based on the hue confusions which are represented diagrammatically on the Panel D-15 score sheet. This paper presents a new proposal for quantitatively scoring the Panel D-15 based on those hue confusions made by the subject. Such a quantitative score can be used to establish relationships with other visual functions or experimental conditions. The application of the scoring technique to clinical results is illustrated.

Color Perception Tests

The effect of oral contraceptives on colour vision in diabetic women.

The results of previous studies of the effect of oral contraceptives on visual function have produced discrepancies and have lacked specific restraints on the control and experimental groups. We compared 14 diabetics with normal acuity who were taking oral contraceptives with equivalent diabetic and control groups and used the Pickford-Nicholson anomaloscope and the Farnsworth-Munsell 100-Hue test. Diabetics using oral contraceptives showed a definite trend to increases in tritanomaly and extended red-green matching ranges. When these losses were classified by degree of defect a significantly higher incidence of major defects was found among diabetics on "the pill". Partial correlations for colour variables, duration of diabetes and duration of contraceptive therapy revealed a compounding effect. While subjects using oral contraceptives demonstrated trends toward the extreme scores, these effects were found only in one out of every four users.

Adolescent

Color perception profiles in central achromatopsia.

Central achromatopsia is an impairment of color perception caused by damage to the visual association cortex. Its psychophysical underpinnings remain poorly defined. We report our attempt to characterize the defect along critical dimensions of color space, taking advantage of the same standardized tasks that allow detailed profiles in patients with retinal cone defects. We studied two patients. The results in patient 1 showed that perceptual color space was collapsed along the red-green (R-G) and short-wavelength-sensitive cone (S-cone) dimensions but that discriminations along achromatic dimensions were relatively preserved. Additional observations showed that the defect was dependent on target size, and that processing of surface and light source effects that differ from color (eg, transparency) was intact. Patient 2 showed a less severe color processing defect involving signals arising from the S-cones of the retina, although an R-G defect was also present. The profiles in these two patients demonstrate that central achromatopsia encompasses a range of color processing impairments with varied psychophysical characteristics.

Adult

An averaging method for the interpretation of the Farnsworth-Munsell 100-Hue Test--I. Congenital colour vision defects.

A method is described for identifying polarity in Farnsworth-Munsell 100-Hue test data. The method is facilitated by the use of a micro-computer and involves the plotting of "averaged" scores for each cap of the test. Results are presented for 30 protanopes, 30 deuteranopes, 1 tritanope and 2 typical rod monochromats. Analysis of the results shows that the proposed technique is compatible with standard methods of interpreting 100-Hue plots and is suitable to use when error scores are high and when polarity is difficult to interpret.

Adolescent

Basic phenomena in acquired colour vision deficiency.

Acquired colour vision defects are directly related to the fixation mode: blue-yellow defects in foveolar fixation, blue-yellow or red-green defects in eccentric fixation. The primary localization of a disease can be retraced from the degree of cone damage. Optic nerve diseases essentially lack signs of cone damage. Processes at the level of the choriocapillaris/retinal pigment epithelium induce a non-selective receptor impairment. There are minor signs of cone damage. In cone dystrophies there is selective cone damage. Scotopization indicates a relatively well-preserved rod function.

Adolescent

[Detection of dyschromatopsias and professional orientation].

Certain professions necessitate correct recognition of colour in their practice. Early defection of coloured vision abnormalities and professional orientation are therefore very important, especially as it is known that 8 % of the population presents a congenital dyschromatopsy of which one fourth (about 2 %) are serious dyschromatopsies which will prevent the practice of a certain number of professions.

Color Perception Tests

Frequencies of different types of colour vision defects in the Netherlands.

Two different population samples in Holland--one consisting of 1,093 boys from a technical school and the other of 493 male and 416 female students--were analysed for the presence of red-green colour vision defects. A total percentage of 7.3 for the male population was found. Based on the combined results of the Ishihara and HRR pseudoisochromatic plates, the Farnsworth 15-hue test and the anomaloscope, a subdivision of the deuteranomalous individuals into 3 subgroups is made. It is suggested that the differences between these groups may be genetic in nature and that the actual number of different genetic entities may still be greater.

Adolescent

Recent developments in certain X-linked genetic eye disorders.

Over the past few years, genetic diseases of the ocular system have become very active and fast-growing research areas in the vision field. The rapid development of the recombinant DNA techniques together with somatic cell genetics, during the last two decades has fueled this progress. As a result, many genetic disease genes have been localized in the human chromosome and several of them have been isolated and characterized. These and other studies have profoundly enriched our basic understanding of genetic eye disorders. Although gene replacement therapy, prenatal diagnosis and carrier detection have not been extensively tried for genetic eye diseases, such attempts will now be feasible. Molecular analyses made it clear that there are many challenging problems that need attention. This report highlights some of these initial developments, particularly on the X-linked major genetic eye diseases. In order to help the beginners and general audience, a brief description of the clinical pathology and the molecular probes used to locate the genetic defects of certain disorders are presented. Disorders are arranged according to their linkage from telomere to telomere on the chromosome to give a coherent structure. It is hoped that this information is useful and of general interest for the beginners, established investigators and ophthalmologists.

Cataract

Hypertensive optic neuropathy.

In 1970 a 62-year-old physician with hypertensive vascular disease suffered a small infarction in the left optic disc, which left him with a subtle paracentral temporal visual field defect in that eye. In 1973 he had another separate and distinct episode in the same eye, which produced a dense lower nasal field defect. Careful Hruby lens examination of the disc under high magnification revealed focal arteriolar disease in the optic nerve head corresponding to the field defects, and fluorescein angiography confirmed these findings. The importance of differentiating ischemic optic neuropathy, hypertensive optic neuropathy, and temporal arteritis with optic nerve involvement is emphasized, and the therapy of each is discussed.

Color Vision Defects