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At least 523 records · Page 29Linked to original sources
PubMed2001

Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy.

PURPOSE: To study a large family with X-linked progressive cone-rod dystrophy. METHODS: There were 128 members in the family. Of these, 45 had an ophthalmological examination and 3 gave their permission to use the results of their recent ophthalmological examination. In addition to the usual eye examination, visual fields, colour vision, dark adaptation and electroretinogram (ERG) were examined. RESULTS: Ten affected men aged 6 to 81 years were found in the family. The visual acuities varied from counting fingers (cf) 10 cm to 0.5 in the right eye (RE) and from cf 30 cm to 0.4 in the left eye (LE). The refraction was myopic in all affected members, varying from -1.5 to -24.0 D (RE) and from -2.0 to -20.25 D (LE). In visual functions, central scotomas and concentric constriction in the visual fields, red or red-green defects in colour vision, abnormal cone and rod dark adaptation and affected cone response in ERG were found. The 6 obligate carriers were aged 17 to 77 years. Their visual acuities varied from 0.05 (strabismic amblyopia) to 1.25(RE) and from 0.7 to 1.25 (LE), and refraction from +/-0 to +6.0 D (RE) and from -0.5 to +5.0 D (LE). Their visual fields and colour vision were normal. The non-affected men were aged 13 to 55 years, their visual acuity was normal in both eyes, and refraction varied from -5.0 to +1.5 D (RE) and from -5.5 to +1.75 (LE). The result of the eye examination was normal except in colour vision: two men were congenitally deuteranomalous. The women who were not obligate carriers were aged 10 to 77 years, their visual acuity was from 0.3 to 1.6 in both eyes, and refraction from -5.5 to +4.75 (RE) and from -5.25 to +4.0 (LE). Two women had one amblyopic eye. Otherwise the eye examination was normal. CONCLUSIONS: The clinical diagnosis of X-linked cone dystrophy 1 (COD1) is based on progressive loss of visual acuity, moderate or high myopia, red colour vision defect and affected cone response or cone and rod response in ERG. The future identification of the COD1 gene will confirm the diagnosis of the disease and help in genetic counseling of the family.

Adult↗
PubMed2000

Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase.

OBJECTIVE: To describe the clinical features of autosomal dominant cone-rod retinal dystrophy (CRD) in a British family mapping to chromosome 17p12-p13 (CORD6), with a heterozygous mutation (Glu837Asp/ Arg838Ser) of GUCY2D. DESIGN: A prospective, clinical family survey. PATIENTS: Ten affected members of a family with autosomal dominant CRD. METHODS: Full clinical examinations were undertaken. Selected affected family members underwent electrophysiologic evaluation, scotopic static perimetry, dark adaptometry, and color vision assessment. MAIN OUTCOME MEASURES: Clinical appearance and electroretinographic responses. RESULTS: Typical clinical and electroretinographic features of childhood-onset CRD were recorded. In addition, moderate myopia and pendular nystagmus were seen in affected individuals. Color vision assessment in the youngest affected individual showed no color discrimination on a tritan axis, but retention of significant red-green discrimination. Electronegative electroretinogram responses were seen on electrophysiology in the only young family member examined. CONCLUSIONS: The phenotype associated with GUCY2D CRD is clinically distinct from that associated with other dominant CRD loci. Unusual electroretinographic responses may indicate that this mutation of GUCY2D is associated with early defects in photoreceptor synaptic transmission to second-order neurons.

Adolescent↗
PubMed1996

Increment threshold and purity discrimination spectral sensitivities of X-chromosome-linked color-defective observers.

The goal of the study was to evaluate spectral opponency in nine X-chromosome-linked color-defective observers. The tasks included increment threshold spectral sensitivity on an achromatic background, heterochromatic flicker photometry, and colorimetric purity discrimination. With a task of heterochromatic flicker photometry, the anomalous trichromatic observers showed spectral sensitivity of the corresponding dichromat. The increment threshold spectral sensitivity and colorimetric purity discrimination data were analyzed using the concept of standard cone photopigment spectral sensitivities for normal and defective vision, and a model that postulates one cone-additive and two cone-antagonistic systems. The model incorporated a shift of the peak spectral sensitivity of the long-wavelength-sensitive (LWS) pigment (for protan observers) or of the middle-wavelength-sensitive (MWS) pigment (for deutan observers). Two dichromats and two anomalous trichromats did not show clear evidence of LWS vs MWS cone antagonism. Five anomalous trichromats showed such cone antagonism. Molecular genetic analysis of the opsin genes is presented for eight of the observers.

Color Vision Defects↗
PubMed1992

A new way to use the Ishihara test.

The Ishihara plates are widely used as a test for colour vision. Originally designed for the purpose of detecting congenital red-green colour blindness, the test also has some value in demonstrating acquired colour vision defects. There are, however, several disadvantages in the present arrangement of the plates. A modification of the test, involving the rearrangement of the order of the plates, is presented which, together with a new recording chart, simplifies both the administration and the interpretation of the test.

Color Perception↗
PubMed1992

The use of colour difference vectors in diagnosing congenital colour vision deficiencies with the Farnsworth-Munsell 100-hue test.

Colour difference vector analysis provides useful and meaningful information in scoring the Farnsworth-Munsell (FM) 100-hue test. However, the FM 100-hue test is limited in its ability to diagnose type and severity of congenital colour vision defect. Type classification for all subjects is incorrect in 21% of cases, and for deuteranomals the misclassification rate is 38%. Visual inspection of the plots yields a similar misclassification rate and classification of plots with few errors (under 180) is generally less reliable. The FM 100-hue test has a limited ability to separate dichromats from anomalous trichromats. A test protocol based on joint D15 and FM 100-hue tests should pass 36% of anomalous trichromats and 26% of all colour defectives yet fail all dichromatic observers. We conclude that administering the FM 100-hue test is of less value than a combination of D15 panels (Standard D15 and L'Anthony's desaturated D15) in the clinical diagnosis of congenital colour defective observers. Our results for the FM 100-hue panel are similar to those reported previously by other investigators.

Adult↗
PubMed1992

Late onset dominant cone dystrophy with early blue cone involvement.

A dominant cone dystrophy spanning seven generations was found in a pedigree from the Netherlands. The onset of the decline of visual acuity started after the age of 20, while a near complete absence of blue cone function (a so-called tritan defect) already existed before the presence of any ophthalmological abnormalities.

Adolescent↗
PubMed2002

Keratoconus associated with cone-rod dystrophy: a case report.

A 31-year-old man with bilateral keratoconus associated with apical corneal scarring underwent uneventful penetrating keratoplasty in his left eye. Postoperatively his best-corrected visual acuity did not improve beyond 20/120. Examination of the fundus revealed features suggestive of bull's eye maculopathy. On performing an electroretinogram study of both eyes, grossly delayed implicit time with reduced amplitudes of the rod response and extinguished cone waveforms were noted, indicating cone-rod dystrophy. Color blindness was also noted on testing with Ishihara's pseudoisochromatic plates. Genetic counseling showed this to be an isolated defect with negative family history. Preoperative electrophysiologic studies may have a prognostic role in these cases.

Adult↗
PubMed1991

A family with acquired and inherited blue-yellow axis.

The pedigree of a family with a blue-yellow axis in the Farnsworth 100-Hue is reported. The fact that a blue-yellow axis corresponds to an inherited defect in 6 subjects and to an acquired defect in 1 subject is discussed. Methodological conditions necessary for making the differential diagnosis between an inherited and an acquired blue-yellow defect are recalled.

Adult↗
PubMed1983

Visual fields: simplified screening and recording procedures.

In some cases, visual field screening must be greatly simplified in order to obtain clinically useful information. This becomes possible when specific techniques are used for anomalies such as relative central scotoma, hemianopsia, and glaucomatous field defects. A working knowledge of visual pathway anatomy and function enables the optometrist to efficiently screen for these disorders by confrontation with red test objects, with pseudoisochromatic plates, and with the tangent screen. After the type of field defect has been determined by initial screening, recording its parameters with the tangent screen follows easily.

Color Perception Tests↗
PubMed2002

Protan colour vision deficiency and road accidents.

BACKGROUND: Protans are precluded from holding a commercial driver's licence in Australia because they have a substantially reduced ability to see red lights and have more road accidents involving signal lights. This exclusion has been in place since 1994 but is likely to be abandoned following a current review of medical standards for commercial drivers. This paper reviews the level of risk of road accidents due to protan colour vision deficiency. It also addresses the question of whether it is fair to regard all protans as having a higher risk of road accident because some protans might have a sensitivity to red light that is as good as that of some people with normal colour vision. METHODS: Data of two studies by Verriest and co-workers are re-analysed to estimate the degree of overlap of the protan and colour normal distributions of sensitivity to red light. RESULTS: Field trial data show that protans have a very reduced visual range for red signals compared to colour normal observers but there is considerable variability among both classes of observers and the distributions do overlap. However, some variability is due to differences in observers' choices of a detection criterion, their speed of response and the measurement method. A laboratory study of the spectral sensitivity of protan and colour normal subjects that largely removes these sources' variability shows that all protans have a sensitivity to red light that is less than that of the least sensitive colour normal. CONCLUSION: It is reasonable to conclude that all protans, regardless of the severity of their defect, have a lesser ability to see red signals than colour vision normal observers and for that reason will have a higher risk of road accident.

Accidents, Traffic↗
PubMed1998

Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Total colourblindness (OMIM 216900), also referred to as rod monochromacy (RM) or complete achromatopsia, is a rare, autosomal recessive inherited and congenital disorder characterized by photophobia, reduced visual acuity, nystagmus and the complete inability to discriminate between colours. Electroretinographic recordings show that in RM, rod photoreceptor function is normal, whereas cone photoreceptor responses are absent. The locus for RM has been mapped to chromosome 2q11 (ref. 2), however the gene underlying RM has not yet been identified. Recently, a suitable candidate gene, CNGA3, encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel, a key component of the phototransduction pathway, has been cloned and assigned to human chromosome 2q11 (refs 3,4). We report the identification of missense mutations in CNGA3 in five families with RM. Homozygous mutations are present in two families, whereas the remaining families show compound heterozygous mutations. In all cases, the segregation pattern of the mutations is consistent with the autosomal recessive inheritance of the disease and all mutations affect amino acids that are highly conserved among cyclic nucleotide gated channels (CNG) in various species. This is the first report of a colour vision disorder caused by defects other than mutations in the cone pigment genes, and implies at least in this instance a common genetic basis for phototransduction in the three different cone photoreceptors of the human retina.

Base Sequence↗
PubMed1978

Incomplete achromatopsia in Bishnupur.

Nine males and 2 females from the Shankhabanik Community in Bishnupur, provisionally diagnosed as incomplete rod achromats by Bose, Joardar and Sukul in 1968, with 2 new similar males, were tested more fully with six colour vision tests. All had photophobia, nystagmus of fixation, extremely low visual acuity and extreme loss of colour sense with shortened red spectrum. 40 other males and 24 females, relatives of the defectives, were also tested for comparison. The provisional diagnosis was confirmed, and the hypothesis of autosomal inheritance seemed most probably true. Various details about the relatives emerged.

Color Vision Defects↗
PubMed1983

A time induced tritan defect.

It is hypothesized that if blue is signalled more slowly than red in the visual system, and if integration time is longer for blue than for red, then a tritan defect should be apparent for normal observers. Data from short-exposure viewing of the City University Colour Vision Test indicate that, at 3.75 msec. a significant tritan error occurs.

Adult↗
PubMed2002

Impairment of colour vision in patients with n-hexane exposure-dependent toxic polyneuropathy.

The aim of this study was to investigate the effects of n-hexane on visual function and to determine the duration of any symptoms related to workplace exposure. The study involved 26 workers diagnosed as having polyneuropathy following n-hexane exposure. The FM-100 Hue test was used to determine colour discrimination in study volunteers. Their results were compared with a control group of 50 people who had not been exposed to n-hexane. The mean total error score for the exposed group was 168.3 (SD = 70.5) for the right eye and 181.5 (SD = 103.0) for the left eye. The mean total error scores for the control group for the right and left eyes were 36.0 (SD = 19.8) and 35.6 (SD = 18.2), respectively. Differences between total and partial error scores for exposed and control groups were statistically significant (P < 0.001). These results may indicate a relationship between n-hexane exposure and development of defects in colour vision, and would support a recommendation for periodic assessment of workers exposed to n-hexane and chemically related solvents.

Adhesives↗
PubMed1995

Visual deficits in children born at less than 32 weeks' gestation with and without major ocular pathology and cerebral damage.

AIMS: A study was carried out to compare the visual abilities of prematurely born children with those of matched full term controls. METHODS: The vision of 68 children born at less than 32 weeks' gestation and aged between 5 and 7 1/2 years at the time of testing was compared with that of a control group of children born at full term, and matched for sex and age from due date. RESULTS: The premature children had significantly poorer distance and near visual acuity, contrast sensitivity and stereopsis, and a high incidence of colour vision defects (predominantly tritan type). These differences were associated with the high incidence of ocular pathology experienced by 31 (45%) of the premature children compared with only nine (13%) of the controls. When excluding children with ocular and cerebral pathology, 32 matched pairs of premature and control children remained. The 32 premature children did not differ from their controls in terms of distance and near acuities or stereopsis, but they did have significantly poor contrast sensitivity in both their 'best' and 'worst' eyes. None of the 32 control children had colour vision defects, compared with seven of the matched premature children. CONCLUSION: This adds support to previous speculation that the preterm eye is at risk of subtle visual impairment independent of the occurrence of refractive error, manifest squint, disorders of the fundus and media, and cerebral damage.

Cerebral Palsy↗
PubMed1989

[Cerebral achromatopsia (symptoms, course, differential diagnosis and examination strategy). II].

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 large-field 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.

Anomia↗
PubMed1988

[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↗
PubMed1984

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↗