Dominant congenital deafness and progressive optic nerve atrophy. Occurrence in four generations of a family.
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We examined 24 individuals in four family pedigrees with dominantly inherited optic atrophy (DOA); 12 patients met the criteria for diagnosis of DOA and two were suspect. Our data indicate that (1) insidious onset usually occurred in childhood, but subjective visual symptoms may evolve in adulthood; (2) visual function was minimally (20/25) to moderately (20/400) abnormal, could be strikingly asymmetric in an individual (eg, 20/30 in the right eye and 20/200 in the left eye), and showed considerable intrafamilial and interfamilial variation; (3) visual field defects consisted of central and centrocecal scotomas, but no peripheral isopter abnormalities were found; (4) color-vision screening with Hardy-Rand-Rittler plates revealed dyschromotopsias, but only Farnsworth-Munsell 100-hue examination disclosed the typical tritan defects; (5) pattern-reversal visual-evoked responses were characterized by diminished amplitudes and prolonged latencies, consistent with neural conduction defects; (6) disc pallor was limited to the temporal segment in all cases, and 16 of 24 eyes showed focal temporal excavation, which is probably pathognomonic of DOA.
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.
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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.
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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.
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The term scotopization refers to the intrusion of rod activity in colour vision when assessed under photopic observation conditions. Scotopization is an important symptom of cone dystrophies. The detection of scotopization is not easy. With the Nagel-II anomaloscope scotopization can be detected in two ways. One method is new and this method is described in the present paper.
PURPOSE: A population-based study was conducted to determine the prevalence of color deficiencies in secondary-school students (ages 12-14) in Tehran. METHODS: A total of 2,058 students (1,136 males, 922 females) were examined with Ishihara pseudoisochromatic color plates. RESULTS: In the study population, 97 cases of defective color vision were detected, including 93 males and 4 females. The affected individuals all had negative histories of previous systemic and ocular disease or chronic use of medications. The visual acuity was 20/20 and the fundus was normal in all affected students. Of the 93 cases of defective color vision in males (8.18%), 56 cases (4.93%) involved deuteranomaly, 13 (1.14%) protanomaly, 13 (1.14%) deuteranopia, and 11 (0.97%) protanopia. The four cases in females (0.43%) involved deuteranomaly in three cases (0.32%) and protanomaly in 1 case (0.11%). Deuteranopia and protanopia were not detected in females. CONCLUSION: This is the first study to determine the prevalence of congenital color blindness in Iran. The results agree with reports of prevalence of congenital color blindness from Western Europe.
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