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  • 1
    Electronic Resource
    Electronic Resource
    Mutation of a nuclear receptor gene, NR2E3 , causes enhanced S cone syndrome, a disorder of retinal cell fate (2000)
    [s.l.] : Nature America Inc.
    Nature genetics 24 (2000), S. 127-131 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] Hereditary human retinal degenerative diseases usually affect the mature photoreceptor topography by reducing the number of cells through apoptosis, resulting in loss of visual function. Only one inherited retinal disease, the enhanced S-cone syndrome (ESCS), manifests a gain in function of ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/72777
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  • 2
    Electronic Resource
    Electronic Resource
    Loss-of-function mutations in a calcium-channel α 1 -subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness (1998)
    [s.l.] : Nature America Inc.
    Nature genetics 19 (1998), S. 264-267 
    Details
    ISSN: 1546-1718
    Source: Nature Archives 1869 - 2009
    Topics: Biology , Medicine
    Notes: [Auszug] X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night blindness, decreased visual acuity, myopia, nystagmus and strabismus. Two distinct clinical entities of X-linked CSNB have been proposed. Patients with complete CSNB show ...
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1038/947
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  • 3
    Electronic Resource
    Electronic Resource
    Light adaptation and the luminance-response function of the cone electroretinogram (1992)
    Springer
    Documenta ophthalmologica 79 (1992), S. 363-369 
    Details
    ISSN: 1573-2622
    Keywords: Cone ; electroretinogram (ERG) ; luminance-response function
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Cone electroretinograms are typically isolated by presenting stimulus flashes against rod-desensitizing adapting fields. To investigate the manner in which adapting-field luminance affects cone electroretinogram response properties, we measured cone electroretinogram luminance-response functions of two normal subjects, with stimuli presented against adapting fields that ranged in luminance from -1.2 to 2.1 log cd/m2. A flicker rate of 31.1 Hz was used to isolate cone electroretinograms under all adaptation conditions. A hyperbolic equation of the form (R/Rmax)=Ln/(Ln+Kn) was fitted to each luminance-response function by a least-squares criterion. As adapting field luminance increased, the best-fit values of the variables K and n increased, which is in general agreement with results of electrophysiologic studies of light adaptation in retinal neurons. However, Rmax values also increased with adapting field luminance. The change in all three of these variables with adapting field luminance must be considered in the interpretation of cone electroretinogram luminance-response functions from patients with retinal disorders.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00160949
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  • 4
    Electronic Resource
    Electronic Resource
    Granulomatous anterior uveitis presenting with acute posterior multifocal placoid pigment epitheliopathy (1995)
    Springer
    Documenta ophthalmologica 89 (1995), S. 347-353 
    Details
    ISSN: 1573-2622
    Keywords: APMPPE (Acute posterior multifocal placoid pigment epitheliopathy) ; Granulomatous anterior uveitis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) has been described as a posterior segment inflammatory disorder of young adults of unknown etiology. Granulomatous anterior uveitis in association with APMPPE has only rarely been reported in the literature. We report a patient who presented with clinical and angiographic findings consistent with APMPPE in addition to granulomatous anterior uveitis with mutton-fat keratic precipitates and Koeppe nodules. This latter finding has not been emphasized as a possible feature of APMPPE.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01203710
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  • 5
    Electronic Resource
    Electronic Resource
    Rod-cone interaction in flicker perimetry: evidence for a distal retinal locus (1985)
    Springer
    Documenta ophthalmologica 60 (1985), S. 3-36 
    Details
    ISSN: 1573-2622
    Keywords: rods ; cones ; flicker ; perimetry ; retina
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The luminance threshold for the detection of 25 Hz flicker was measured in nine patients with retinal disorders under stimulus conditions that have been shown previously to involve an interaction between rod and cone systems. The disorders studied included congenital stationary nightblindness, X-linked juvenile retinoschisis, hereditary dominant optic atrophy, optic atrophy found in association with neurofibromatosis, retinitis pigmentosa, choroideremia, and an acquired diffuse photoreceptor disorder, all of which involve pathologic changes that are presumed to occur primarily at specific levels of the retina. The results are consistent with a distal (outer) retinal locus for the rod-cone interaction.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00164567
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  • 6
    Electronic Resource
    Electronic Resource
    Alex E. Krill: A brief biography of his life and final days (1995)
    Springer
    Documenta ophthalmologica 89 (1995), S. 93-100 
    Details
    ISSN: 1573-2622
    Keywords: History of ophthalmology ; Hereditary retinal disease ; Music ; Airline crash
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract At the time of his death in 1972 at 44 years, Alex E. Krill had an established reputation as an authority on the topic of inherited retinal and choroidal dystrophies. He lived to see the publication of the first volume of his two volume textbook on Hereditary Retinal and Choroidal Diseases but perished in an airline crash before the completion of the second volume of this text. Although Dr. Krill had completed a substantial portion of the material for this second volume, the publication of a second volume would unlikely have resulted without major additional efforts from two of his colleagues Drs. Desmond Archer, Belfast, Northern Ireland, and August Deutman, Nijmegen, the Netherlands. This work is a testimonial to the scope of Alex Krill's knowledge of various retinal disorders and their proper investigation and classification by electrophysiologic and psychophysical procedures. It is also a lasting tribute to his memory by two generous and devoted colleagues.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01203404
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  • 7
    Electronic Resource
    Electronic Resource
    Electrophysiology and inherited retinal disorders (1985)
    Springer
    Documenta ophthalmologica 60 (1985), S. 107-119 
    Details
    ISSN: 1573-2622
    Keywords: Electroretinography ; electro-oculography ; pseudo-Best's dystrophy ; Stargardt's macular dystrophy ; cone dystrophy ; retinitis pigmentosa
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An understanding of electrophysiologic procedures and their application is crucial for evaluating patients with inherited retinal disorders. This review emphasizes the value of electrophysiologic procedures in the differential diagnosis of clinically similar disorders, the evaluation of atypical presentations of known retinal disorders, and the determination of the extent of dysfunction in photoreceptor-retinal pigment epithelial disease. It is important for each investigator to assess quantitatively the short-term variability inherent in each electrophysiologic procedure so that meaningful data can be obtained on the natural history of the various inherited retinal disorders being monitored.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00158025
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  • 8
    Electronic Resource
    Electronic Resource
    Stereoacuity testing in patients with retinal and optic nerve disorders (1995)
    Springer
    Documenta ophthalmologica 91 (1995), S. 265-271 
    Details
    ISSN: 1573-2622
    Keywords: Malingering ; Optic nerve disorders ; Retinal disorders ; Stereoacuity ; Visual acuity
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A study comparing the relative sensitivity for detecting abnormal stereoacuity in patients with retinal or optic nerve disease on clinically used stereoacuity tests is not available. It is also not apparent from the ophthalmic literature if optic nerve or retinal diseases are likely to have a greater impact on stereoacuity performance. We were also interested in determining a level of visual acuity loss that would likely result in an impairment of stereoacuity on these clinical tests. Forty-two patients with various retinal and optic nerve disorders and eighteen normal subjects were evaluated for stereoacuity using three tests: Titmus Stereoacuity Test (TST), Randot Stereoacuity Test (RST), and TNO Stereoacuity Test (TNO). The performance on these three stereoacuity tests was compared with the normal subjects. Additionally, TST scores from our patients were compared to predicted TST scores derived from a previously published nomogram. For patients with retinal and optic nerve disease, an abnormal score on one clinical test of stereoacuity was likely to predict an abnormality on the other tests. Performance on the TST relative to the predicted value derived from a nomogram was not significantly different for patients with retinal vs. optic nerve disease. With some exceptions, patients with visual acuities of 20/30 or worse in at least one eye were likely to show abnormal stereoacuity.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01204177
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  • 9
    Electronic Resource
    Electronic Resource
    Carriers of X-linked recessive retinitis pigmentosa: investigation by vitreous fluorophotometry (1981)
    Springer
    International ophthalmology 4 (1981), S. 37-44 
    Details
    ISSN: 1573-2630
    Keywords: vitreous fluorophotometry ; retinitis pigmentosa ; blood-retinal barrier ; electroretinogram ; carrier
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract The blood-retinal barrier was assessed by vitreous fluorophotometry in nine carriers of X-linked recessive retinitis pigmentosa. A breakdown of the blood-retinal barrier was apparent in all patients. In one carrier, the barrier was compromised even when abnormalities were not apparent in the retina ophthalmoscopically or by electroretinogram testing. The degree of abnormality of the blood-retinal barrier tended to parallel the extent of abnormalities noted on ophthalmoscopy, visual field examination, and electroretinogram testing.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00139579
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