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At least 991 records · Page 55Linked to original sources
PubMed1977

Acquired cerebral dyschromatopsia.

Color blindness developed in five patients apparently because of lesions in the posterior portions of both cerebral hemispheres. Three of them also had symptoms of prosopagnosia. The lesions were neoplastic in two and vascular in three of the patients. It would appear that bilateral, inferior, occipital lobe lesions may be responsible both for acquired cerebral dyschromatopsia and prosopagnosia. Evidence from experimental investigations in primates suggests that the areas of the cerebral hemispheres analogous to those involved in these patients, may be specialized for the processing of colored stimuli.

Adult↗
PubMed1981

Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus.

Twenty-nine members of a black kindred with congenital X-linked incomplete achromatopsia were examined; nine affected males and seven carrier females were identified. The new findings of importance are the following: (1) this congenital disorder is a slowly progressive abiotrophy, with progressive macular scarring and cone dysfunction, rather than a stationary anomaly; (2) carrier females sometimes can be found by ophthalmoscopic and fluorescein angiographic abnormalities in the macula; and (3) genetic linkage studies give evidence against linkage with the locus for the Xg blood group, but they suggest possible linkage with the glucose-6-phosphate dehydrogenase locus.

Adolescent↗
PubMed1982

Visual improvements with red-tinted glasses in a patient with cone dystrophy.

A patient with cone dystrophy empirically discovered that his vision improved when a red filter was placed in front of his eyes. The present study documents the conditions under which his visual acuity and field improved and shows that the patient's vision is mediated by the night vision photoreceptors, the rods. Increment threshold functions examined the benefits (and limitations) of red glasses to the patient's vision.

Adult↗
PubMed1984

Abnormalities of cone photopigments in genetic carriers of protanomaly.

Anomaloscopic color matching was performed in 57 protanomalous boys. The relative luminous efficiencies of their mothers were measured by flicker photometry to clarify the characteristics of protanomaly carriers. The sensitivity loss of protanomaly carriers in the long wave-length region had a highly significant correlation with the anomalous quotients ( AQs ) of their protanomalous sons. This correlation means that both the luminous efficiencies of the protanomaly carriers and the AQs of their sons are determined by the same "anomalous" cone pigments.

Adolescent↗
PubMed1985

Differential diagnosis of congenital tritanopia and dominantly inherited juvenile optic atrophy.

To determine whether congenital tritanopia and dominantly inherited juvenile optic atrophy (DIJOA) are the same clinical entity, we used electroretinograms of the blue-sensitive cone system (blue cone ERGs), comparing those of two patients with congenital tritanopia from two pedigrees with those of four patients with DIJOA from two pedigrees. The examinations also included visual acuity and visual field tests, fundus examination, the dark-adaptation test, and several color vision tests. The blue cone ERG confirmed a difference between the two groups; it was unrecordable in the patients with congenital tritanopia but within the normal range in those with DIJOA. We believe that congenital tritanopia and DIJOA are distinct disease entities and that the blue cone ERG is a key factor in the differential diagnosis.

Adult↗
PubMed1987

Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28.

Blue cone monochromacy (BCM) is an infrequent X-linked retinal disorder typified by poor central visual acuity and color discrimination, early onset of nystagmus, variable degrees of myopia and astigmatism, and a nearly normal retinal appearance. The physiologic functions of rods and blue cones are preserved. The regional location of the genetic mutation causing BCM has been unknown. We have applied the modern molecular techniques of analysis of restriction fragment length polymorphisms to three multigenerational kindreds in which BCM is segregating. Significant linkage is established to two DNA markers, DXS15 and DXS52, each of which maps to the vicinity of Xq28. Regional localization of the locus for BCM has the potential to improve carrier detection and to provide antenatal diagnosis in families at risk for the disease.

Chromosome Mapping↗
PubMed1989

Using argon laser blue light reduces ophthalmologists' color contrast sensitivity. Argon blue and surgeons' vision.

Color contrast sensitivity was measured in laser operators before and after laser use. After argon blue-green laser treatment sessions, sensitivity was reduced for colors lying along a tritan color-confusion line for several hours. This acute effect is due to specular "flash-backs" from the aiming beam off the surface of the contact lens. It is caused only by argon 488-nm light, when the aiming beam intensity is high. In addition, a correlation has been demonstrated between the number of years of laser experience and a chronic reduction in tritan color contrast sensitivity. It is suggested that repeated acute changes caused by the argon lasers may cause cumulative effects and produce a chronic threshold elevation. A simple method of eliminating the acute effect is documented.

Adult↗
PubMed1991

Pigmented paravenous retinochoroidal atrophy. Discordant expression in monozygotic twins.

We studied a 43-year-old woman affected with pigmented paravenous retinochoroidal atrophy and her unaffected monozygotic twin. The affected twin had stable visual acuity (20/25), typical fundus findings, markedly constricted visual fields, abnormal color vision, and an abnormal electroretinogram, all consistent with pigmented paravenous retinochoroidal atrophy. Results of examinations and studies in her twin were entirely normal. Fingerprinting for DNA performed on the twins strongly supported monozygosity. Our findings suggest that either our patient did not inherit pigmented paravenous retinochoroidal atrophy or that an unusual (nonmendelian) genetic mechanism occurred.

Adult↗
PubMed1993

Comparison of the Farnsworth-Munsell 100-Hue, the Farnsworth D-15, and the L'Anthony D-15 desaturated color tests.

OBJECTIVE: The Farnsworth-Munsell 100-Hue, the Farnsworth D-15, and the L'Anthony D-15 desaturated color tests were administered to patients with glaucoma to determine whether the D-15 or D-15 desaturated color tests could be used to predict performance on the 100-Hue test in clinical populations. METHODS: The three color tests were administered to 35 patients with glaucoma. The results were analyzed using the method of Vingrys and King-Smith that calculates an angle (type of color loss) score, S-index (measure of the randomness of cap arrangement), and a C-index (a measure of the severity of color loss) based on the cap arrangement. RESULTS: The 100-Hue error score was significantly related to the D-15 and D-15 desaturated C-indexes. Furthermore, the 100-Hue S-index could be predicted from the D-15 or D-15 desaturated S-indexes. The 100-Hue angle could not be predicted from the D-15 or D-15 desaturated color tests. CONCLUSIONS: The D-15 desaturated color test (which requires significantly less time to administer) may be used to assess the severity of color vision deficit in some patient populations.

Color Perception Tests↗
PubMed1993

Blue-on-yellow perimetry can predict the development of glaucomatous visual field loss.

OBJECTIVE: The purpose of this investigation was to determine whether blue-on-yellow (B/Y) perimetry is capable of predicting the onset and location of impending glaucomatous visual field loss in patients with ocular hypertension. DESIGN: A Humphrey Field Analyzer (Humphrey Instruments, San Leandro, Calif) was modified to perform B/Y perimetry to isolate and measure the sensitivity of short-wavelength-sensitive mechanisms. Participants were tested annually with standard white-on-white (W/W) and B/Y automated perimetry for a period of 5 years. PATIENTS: The study population consisted of 38 patients with ocular hypertension and 62 age-matched normal control subjects. RESULTS: Initially, all 76 ocular hypertensive eyes had normal W/W automated perimetry results, with 67 eyes having normal and nine eyes having abnormal B/Y test results. Five years later, five of the nine ocular hypertensive eyes with initial B/Y abnormal results developed glaucomatous visual field loss measured by standard W/W automated perimetry, while none of the 67 ocular hypertensive eyes with initially normal B/Y results developed abnormal W/W perimetry results. CONCLUSIONS: Blue-on-yellow perimetry deficits are an early indicator of glaucomatous damage and are predictive of impending glaucomatous visual field loss for standard W/W automated perimetry. To our knowledge, this is the first prospective, long-term longitudinal study that demonstrates the ability to predict the onset of glaucomatous visual field loss in patients with ocular hypertension on the basis of psychophysical testing.

Adult↗
PubMed1993

Progression of early glaucomatous visual field loss as detected by blue-on-yellow and standard white-on-white automated perimetry.

OBJECTIVE: To determine whether blue-on-yellow perimetry reveals progression of glaucomatous damage before it is evident with standard white-on-white perimetry. DESIGN: A Humphrey field analyzer (Humphrey Instruments, San Leandro, Calif) was modified to perform blue-on-yellow perimetry to isolate and measure the sensitivity of short wavelength-sensitive mechanisms. Participants were tested annually with standard white-on-white automated perimetry and blue-on-yellow automated perimetry for 5 years. PATIENTS: Sixteen patients with early glaucomatous visual field loss in one or both eyes and 62 age-matched normal control subjects. RESULTS: At baseline, 25 (78.1%) of the 32 eyes exhibited larger deficits with blue-on-yellow perimetry, five (15.6%) had equivalent loss with both tests, and two (6.3%) had larger deficits with standard white-on-white perimetry. Seven (21.9%) of the 32 eyes demonstrated evidence of progressive visual field loss with standard white-on-white perimetry in 5 years, while the other 25 eyes (78.1%) were relatively stable. Deficits with blue-on-yellow perimetry were twice as large as deficits with white-on-white perimetry in the stable group and were three to four times as large in the group with progressive field loss. CONCLUSIONS: Blue-on-yellow perimetry is effective in predicting which patients with early glaucomatous visual field loss are most likely to have progressive loss. The rate of progressive loss is greater with blue-on-yellow perimetry than with standard white-on-white perimetry.

Adult↗
PubMed1995

Selective loss of blue cones and rods in human retinal detachment.

OBJECTIVE: To determine if there are histopathologic changes in the outer retina that could explain the blue-yellow color confusion previously described following rhegmatogenous retinal detachment in humans. METHODS: Ten eyes with traumatic retinal detachments were studied. Eight of the eyes were removed from 2 1/2 to 11 days following trauma. In the remaining two eyes, the retinas were successfully reattached. Enzyme histochemical studies for carbonic anhydrase and immunochemical studies for S antigen were performed to distinguish blue cones from red/green cones. RESULTS: With the 2 1/2- to 4-day-old detachments, nearly all of the carbonic anhydrase-negative (blue-sensitive) cones and many of the rods were seen to have signs of irreversible necrosis, including extreme swelling of the inner segments and mitochondria, loss of the outer segments, and pyknotic and displaced nuclei. In the 6- and 11-day-old detachments, almost all of the carbonic anhydrase-negative cones and many rods were missing. Blue cones were essentially absent from the reattached retinas, and there were only about half the normal number of rods. CONCLUSIONS: Rhegmatogenous retinal detachment results in rapid and almost total loss of the blue cones. Significant rod loss also occurs in this type of detachment but the red/green cones are comparatively resistant to damage. These findings could explain the observed blue-yellow color confusion in such patients. We discuss other clinical implications.

Acute Disease↗
PubMed1996

Clinical features in affected males with X-linked retinoschisis.

OBJECTIVES: To assess the phenotypic variation and visual prognosis of affected males with X-linked retinoschisis. DESIGN: Patients were ascertained from clinical geneticists and ophthalmologists in the United Kingdom. Genetic linkage analysis was carried out using polymorphic microsatellite markers from the Xp22 region of the X chromosome. PATIENTS: Fifty-six males from 16 British families with X-linked retinoschisis. RESULTS: Best-corrected visual acuity ranged from 20/20 to 20/600; 14 (25%) of the patients saw 20/40 or better, and 27 (55%) read N6 or better. Visual acuity was poorer in older patients (chi 2 =30.4, df=4, P<.001). Macular abnormalities were seen in all eyes. Foveal schisis was the most common abnormality seen in patients younger than 40 years (73 eyes [83%]), but in older patients a blunted foveal reflex or pigmentary atrophy was more common (17 eyes [85%]). Peripheral retinoschisis was seen in 40 (71%) of the patients. Vitreous hemorrhage occurred in 12 (21%) and retinal detachment in nine (16%) of the patients. Four eyes were blind as a result of retinal detachment. CONCLUSIONS: Although no evidence exists for genetic heterogeneity in X- linked retinoschisis, there is wide phenotypic variation. The most serious sight-threatening complications are vitreous hemorrhage and retinal detachment. In uncomplicated cases, the prognosis for vision is good, although deterioration of vision occurs in the fourth and fifth decades of life because of macular atrophy.

Adolescent↗
PubMed1997

Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1)

OBJECTIVES: To refine the dominant optic atrophy locus, OPA1, on chromosome 3q and to characterize the phenotype of a 6-generation family pedigree affected with this disease. METHODS: Fifty-six family members had a complete eye examination. Clinical records of an additional 3 patients were reviewed. Goldmann perimetry and a 21-chip subtest of the Farnsworth-Munsell 100-Hue test were performed on selected patients. Affected patients, unaffected siblings, and potentially informative spouses were genotyped with short tandem repeat polymorphisms located on chromosome 3. The genotypic data were subjected to linkage analysis. RESULTS: Thirty-four family members were found to be clinically affected. Most experienced vision loss (20/40 or poorer) in the first decade of life. Most (9 of the 16 eyes) progressed to 20/800 or poorer visual acuity by age 60 years, while 2 patients maintained visual acuities of 20/40 at that age. Affected patients had a 2- to 10-fold increase in the error score of a 21-chip subtest of the Farnsworth-Munsell 100-Hue test compared with age-matched unaffected family members. The optic nerve examination revealed temporal pallor and excavation in all affected individuals. Linkage analysis revealed significant lod scores with 9 markers. The highest lod score, 10.1 (theta = 0) [corrected], was obtained with marker D3S2305. Analysis of recombinants narrowed the disease interval to approximately 3.8 centimorgans, flanked by D3S3669 (centromeric) and D3S1305 (telomeric). CONCLUSIONS: Most patients affected with dominant optic atrophy in this family progressed to legal blindness by middle age. Color vision testing is a sensitive method for detection of affected patients. The dominant optic atrophy locus, OPA1, has been refined by the identification of new flanking markers: D3S3669 (centromeric) and D3S1305 (telomeric).

Adolescent↗
PubMed1976

Familial congenital monochromatism, cataracts, and sensorineural deafness.

Two sisters had diagnoses of congenital monochromatism, cataracts, bilateral nonprogressive sensorineural deafness, and hyperinsulinism in both, and labyrinthine dysfunction in one. This recessively inherited condition is added to the growing number of syndromes in which one of the features may be a disturbance of hypothalamic function.

Cataract↗