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Biomedical subjects

A Blankenagel

Publications and source records attributed to A Blankenagel.

At least 19 recordsLinked to original sources
PubMed1992

Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor: no linkage to DXs7.

Leber's hereditary optic neuroretinopathy (LHON) was the first human disease for which mitochondrial inheritance was demonstrated. Analysis of genealogies, however, suggests the existence of an interacting X-linked factor, and linkage to DXS7 was recently described. We tested this location in four LHON families, with DXS7 and two flanking markers, OTC and DXS426. We found recombinations with DXS7 in two families and with DXS426 in one. The two point lod scores to DXS7 were negative with all the allele frequencies for the X-linked factor tested (q = 0.5; 0.35; 0.05).

Female↗
PubMed1992

[Central areolar pigment epithelium dystrophy. Its differentiation from other dominant macular dystrophies].

Central areolar pigment epithelial dystrophy (CAPE dystrophy) is a rare, dominantly transmitted, dystrophy of the retinal pigment epithelium. The disease does not cause severe loss of function. This is partly due to the slightly eccentric localization of the dystrophy (the pigment epitheliopathy has a paramacular temporal localization). The disease is not progressive. Characteristic features are near-normal or normal visual acuity, undisturbed colour vision and normal ERG and EOG. Because of the eccentric position of the dystrophy, we suggest renaming this hereditary dystrophy of the macula as "paramacular areolar pigment epithelial dystrophy". The most important conditions that must be considered in the differential diagnosis are all dominantly inherited macular dystrophies. The most decisive criteria of paramacular areolar pigment epithelial dystrophy are good visual acuity, intact colour vision and normal electrophysiological findings. Because of the dominant transmission with high expressivity and high penetrance, it must be assumed that this dystrophy occurs more frequently than it is diagnosed. Because of the lack of complaints in patients it can easily be overlooked. However, the paramacular areolar pigment epithelial dystrophy should be included in every differential diagnosis of inherited macular dystrophy.

Adolescent↗
PubMed1986

[Can the use of infrared photography give evidence of the prognosis of hereditary macular degeneration?].

The question as to whether infrared photography can help determine the prognosis of hereditary macular degeneration cannot be answered simply in the affirmative or negative. Changes in the retinal surface layers are not detected by infrared photography. Therefore, no statement can be made regarding the prognosis of these types of macular degeneration. As far as macular degenerations of the deeper layers of the fundus are concerned, it cannot be stated as a general rule that severe changes in the infrared photograph imply a worse prognosis. Rather, one has to differentiate on the basis of the form and limitations of the defects. Infrared photography furnishes prognostic information by facilitating differential diagnosis between the prognostically favorable central areolar choroidal atrophy and the unfavorable progressive diffuse atrophy of the choroid. Further pointers to the prognosis can be obtained by differentiation between Stargardt's macular degeneration and diseases with favorable prognoses, which appear similar at the fundus, namely central areolar choroidal atrophy and dominant macular degeneration, which has a relatively benign course. In Stargardt's macular degeneration infrared photography seems to provide the following prognostic information: whether the degeneration is limited to the macula; whether flavimaculatus spots appear, or whether diffuse chorioatrophic degeneration will occur.

Atrophy↗
PubMed1985

[Most recent developments in the field of optical and electronic visual aids for severely visually handicapped and blind patients].

Magnifying spectacles represent one of the indispensable optical aids (Keplerian systems having surpassed Galilean systems during the last years), closed-circuit television, Optacon, and navigating aids based on ultrasound as environmental sensors. -None of the other navigating aids have proved useful. Initial successes have, however, been achieved with a miniature hand-held camera for closed-circuit television and a portable electronic reading system (View-Scan). Genuine progress has been made with the braille information storage systems, which utilize computer technology to store texts which have been read and written, and subsequently to print them or reproduce them on a screen or in synthetic language. Braillex in the Federal Republic of Germany and Versabraille in the U.S.A. are examples of such systems. In special cases a newly developed stereo photocopy system (Minolta) will be useful for newly blinded adults. However, texts in the form of tactile copies have to be highly magnified in order to be palpable and readable.

Blindness↗
PubMed1983

[Differential diagnostic considerations in aniridia congenita and progressive iris atrophy].

The autosomal dominant mode of inheritance in aniridia congenita and in dysgenesis mesodermalis (Rieger's syndrome) usually facilitates differentiation from progressive iris atrophy, whose occurrence is, with very few exceptions, sporadic. However, due to incomplete penetration, aniridia and Rieger's syndrome cannot be ruled out by family history alone. In addition, aniridia may closely resemble certain stages of iris atrophy. For appropriate genetic counseling, the reliability of differentiation between the dominantly inherited conditions and sporadic dystrophy has to be verified by: a) looking for extraocular manifestations of Rieger's syndrome or b) clear evidence of a progressive course in cases of essential iris atrophy.

Adult↗
PubMed1976

[Reading aids for blind persons. Technical possibilities, practice up to now, and future development (author's transl)].

This report deals with electronic reading aids enabling patients with a visual acuity of less than 1/50 to read black-and-white-printed matter. A survey on experience with the Optacon from 1971 on is furnished and the chances of vocational training and the use of supplementary aids. The very handy Optacon (weight: 2 kg) consists of a miniature opto-electronic camera, and a tactile stimulator area consisting of 144 tiny metal rods. The development of another very useful instrument in the hands of the blind looks toward completion: The Braille-Converter. Its functions in short: A TV camera with an intermediate computer which transfers optical information into braille or spoken language.

Adult↗