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  • 1
    Electronic Resource
    Electronic Resource
    Identification of the gene ( BBS1 ) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome (2002)
    [s.l.] : Nature Publishing Group
    Nature genetics 31 (2002), S. 435-438 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Bardet-Biedl syndrome (BBS, OMIM 209900) is a genetic disorder with the primary features of obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation and hypogenitalism. Individuals with BBS are also at increased risk for diabetes mellitus, hypertension and congenital ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/ng935
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  • 2
    Electronic Resource
    Electronic Resource
    Retinal anomalies in trisomy 18 (1980)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 213 (1980), S. 195-205 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Zusammenfassung Die Augen von drei Patienten mit Trisomie 18, die zweithäufigste menschliche autosome Trisomie, wurden histopathologisch untersucht. Transmission- und rasterelectronmikroskopische Befunde zeigen zytologische Einzelheiten in der hinteren Netzhaut, die für unreife Neuralretina charakteristisch sind. Wir sind in der Lage das Ergebnis zu bestätigen, daß bei der Trisomie 18 das Pigmentepithel der hinteren Netzhaut einen Mangel an reifen Malanosomen aufweist und dem Netzhautpigmentepithel eines menschlichen Albinos ähnelt. Der Zusammenhang zwischen Hypopigmentierung und unreifer Netzhaut legt nahe, daß bei der Kontrolle des Reifungsprozesses der Neuralretina die Pigmentierung eine Rolle spielt.
    Notes: Abstract The eyes of three patients with trisomy 18, the second most common human autosomal trisomy, were examined histopathologically. In the posterior retina transmission and scanning electron microscopic examinations reveal cytological details characteristic of immature neural retinas. We are able to confirm the report that the posterior retinal pigment epithelium in trisomy 18 has a paucity of mature melanosomes and, in fact, resembles human albino retinal pigment epithelium. The association of hypopigmentation and retinal immaturity suggests pigmentation plays a role in the control of the maturation of the neural retina.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00410989
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  • 3
    Electronic Resource
    Electronic Resource
    Esotropic children with amblyopia: Effects of patching on acuity (1988)
    Springer
    Graefe's archive for clinical and experimental ophthalmology 226 (1988), S. 309-312 
    Details
    ISSN: 1435-702X
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The rates of improvement of acuity in response to full-time occlusion therapy of 30 esotropic patients with amblyopia were determined. The children's ages at the time of full-time patching ranged from about 3 to 10 years. In keeping with clinical experience, the rate of acuity improvement during patching was slower for older than younger patients. The age-related changes in responsiveness to patching were modeled nonlinearly to provide quantitative guidelines for management of occlusion therapy of esotropic children with amblyopia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02172956
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  • 4
    Electronic Resource
    Electronic Resource
    The development of scotopic retinal function in human infants (1988)
    Springer
    Documenta ophthalmologica 69 (1988), S. 101-109 
    Details
    ISSN: 1573-2622
    Keywords: development ; electroretinography ; human infants ; psychophysics ; pupillography ; retina ; scotopic
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Scotopic retinal function undergoes age-related changes early in human infancy. Electroretinographic, psychophysical, and pupillographic responses have been used in the study of normal development. Various components of the electroretinographic responses index distal and proximal retinal function. Changes in pupillary diameter, measurable in infants under carefully selected conditions, represent rhodopsin regeneration in the photoreceptor outer segment. From psychophysical data, inferences can be drawn about scotopic retinal control of visual performance. These data constrain theories about the determinants of sensitivity, about the flow of signals from the distal, rhodopsin-bearing, outer segments to the proximal retina, and about modulations of straight-through flow by feedback or inhibitory circuits. The results indicate that the post natal development of human scotopic function is due mainly to reorganization of processes central to the photoreceptors.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00153690
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  • 5
    Electronic Resource
    Electronic Resource
    Oscillatory potentials of visually inattentive children (1987)
    Springer
    Documenta ophthalmologica 65 (1987), S. 319-332 
    Details
    ISSN: 1573-2622
    Keywords: a-wave ; b-wave ; electroretinogram ; infants and children ; oscillatory potentials ; visual inattention
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The oscillatory potentials (OPs) are probably generated in the proximal retina. The OPs of 20 visually inattentive infants and children were recorded. All 20 had evidence of abnormalities of the visual parts of the brain. The a- and b-waves, indices of distal retinal function, were normal in 10 patients, abnormal in the other 10. Among the patients with abnormal, attenuated a- and b-waves, OP amplitudes were more attenuated than among those with normal a- and b-waves. However, the timing of the OP wavelets was not correlated with distal retinal activity. These results suggest that in humans OP amplitude may be determined by inputs from the distal retina, but OP latency and periodicity are governed by processes within the proximal retina.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00149938
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  • 6
    Electronic Resource
    Electronic Resource
    Retinal degenerations and brain abnormalities in infants and young children (1985)
    Springer
    Documenta ophthalmologica 60 (1985), S. 133-140 
    Details
    ISSN: 1573-2622
    Keywords: retinal degeneration ; brain abnormality ; infants and children ; electroretinography ; psychophysics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Of 51 infants and children who presented with visual impairment, developmental delays, and suspected brain abnormalities, 28 (55%) had clinical, electroretinographic, and cranial computed tomographic results indicative of cerebroretinal disorders. This report concentrates on the electroretinographic and psychophysical results from 12 patients who had evidence of progression of both brain and retinal disease. We believe these patients represent human cerebroretinal degenerative disorders that have yet to be completely characterized.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00158028
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  • 7
    Electronic Resource
    Electronic Resource
    Electroretinogram responses and refractive errors in patients with a history of retinopathy of prematurity (1995)
    Springer
    Documenta ophthalmologica 91 (1995), S. 87-100 
    Details
    ISSN: 1573-2622
    Keywords: Electroretinography ; Infants and children ; Myopia ; Photoreceptors ; Retinopathy of prematurity (ROP)
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Ametropias, particularly myopia, and mild retinal dysfunction are found in eyes with a history of retinopathy of prematurity. The retina is an important controller of refractive development. The aims of this study were to find out whether altered measures of retinal function and ametropias are associated and to consider mechanisms by which the retina might control refractive development. Nine infants and children with a history of stage 1, 2 or 3 retinopathy of prematurity and known courses of refractive development were studied. Spherical equivalents at the time of the electroretinogram ranged from +5.50 to −9.00 diopters. Rod photoresponse characteristics were derived from the a-wave, and postreceptoral components were also analyzed with calculation of the sensitivity and saturated amplitude of the b-wave, the sensitivity of oscillatory wavelet OP2, and average amplitudes of OP3 and OP4. In hyperopic and myopic patients alike, the saturated amplitude and gain of the rod cell response were attenuated. In all patients, b-wave sensitivity was low, but in most there was little effect on saturated b-wave amplitude. In patients with courses toward myopia, the amplitude of OP4, an ‘OFF’ signal, is relatively more attenuated than that of OP3, an ‘ON’ signal. OP4 is relatively larger in patients with courses toward hyperopia. The OP results suggest that an imbalance of ‘ON’ and ‘OFF’ activity in the retina is associated with development of ametropias in retinopathy of prematurity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01203688
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  • 8
    Electronic Resource
    Electronic Resource
    Rod and rod mediated function in patients with β-thalassemia major (1998)
    Springer
    Documenta ophthalmologica 96 (1998), S. 333-346 
    Details
    ISSN: 1573-2622
    Keywords: β-thalassemia ; electroretinogram ; scotopic ; iron
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An electroretinographic (ERG) study was undertaken to test the hypothesis that scotopic retinal function is altered in transfused thalassemics on chronic Deferoxamine (DFO). ERG a- and b-wave responses and dark adapted visual thresholds were obtained from 11 patients with β-thalassemia major, ages 7 to 38 (median 17) years. A quantitative model of the activation of phototransduction was fitted to the a-waves to estimate the gain of the transduction processes and the saturated amplitude of the rod photoresponse. From b-wave stimulus/response functions, the saturated b-wave amplitude and an index of b-wave sensitivity (log σ) were calculated. The patients' data were compared to those of normal subjects. The relations of the ERG parameters to age, average ferritin level, and duration of transfusion without DFO as well as other clinical parameters were examined. Longitudinal measures of b-wave responses and dark adapted visual thresholds, available for nine of the patients, were examined for significant change over time. For all patients both the gain and saturated amplitude of the rod response are normal. In two patients log σ is below the 99% prediction interval for normal. One has low scotopic visual sensitivity. The duration of transfusion therapy unprotected by DFO chelation therapy was correlated with log σ. These results suggest iron accumulation rather than DFO toxicity underlies scotopic dysfunction in older thalassemics, some of whom may have had extended periods of transfusion without the protection of chelation. Thus, monitoring of retinal function is recommended in such patients.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1023/A:1001728512515
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  • 9
    Electronic Resource
    Electronic Resource
    Electrophysiologic testing techniques for children (1989)
    Springer
    Documenta ophthalmologica 71 (1989), S. 341-354 
    Details
    ISSN: 1573-2622
    Keywords: brain ; children ; development ; electrooculography ; electroretinography ; infants ; retina ; visual impairment ; visually evoked cortical potentials
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This practical article for clinical electrophysiologists discusses the evaluation of infant and child patients’ visual systems using electroretinographic (ERG), electrooculographic (EOG), and visually evoked potential (VEP) techniques. These techniques not only help to secure specific diagnoses, but by systematic assessment of function along the visual pathways can also localize dysfunction underlying visual deficits of pediatric patients. Among children, development as well as disease can affect electrophysiological paramenters. Therefore diagnosis of normal or abnormal depends critically on an adequate description of normal responses for age. Procedures that the authors have found feasible, reliable, and valid are summarized. Standardization of pediatric testing appears to be an important next step. The power of ERG, EOG and VEP recordings to demonstrate the neurophysiological basis for pediatric visual impairment is predicted to stimulate further research in this area.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00152761
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  • 10
    Electronic Resource
    Electronic Resource
    Scotopic stimulus/response relations of the B-wave of the electroretinogram (1988)
    Springer
    Documenta ophthalmologica 68 (1988), S. 293-304 
    Details
    ISSN: 1573-2622
    Keywords: electroretinogram ; b-wave ; scotopic retinal function ; retinal degenerations
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Scotopic b-wave stimulus/response (S/R) functions are abnormal in several human retinal degenerative disorders. However, the mechanisms by which diseases affect the S/R parameters are not yet fully known. Three experiments were done to simulate functional pathologies known to occur in retinal degenerations: 1) attenuated sensitivity of retinal units, 2) loss of rhodopsin, 3) loss of sensitivity with little or no loss of rhodopsin. None of the experimental perturbations of normal function replicated the pattern of S/R abnormalities caused by retinal degenerations. Thus, in the retinal degenerative disorders intrinsic abnormalities of cellular processing must affect the organization of distal retinal function indexed by the b-wave.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00156435
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