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Biomedical subjects

P Amalric

Publications and source records attributed to P Amalric.

At least 19 recordsLinked to original sources

Unusual association of juvenile macular dystrophy with congenital hypotrichosis: occurrence in two siblings suggesting autosomal recessive inheritance.

A familial association between juvenile macular dystrophy and congenital hypotrichosis is described in two siblings aged 25 and 23 years. We put forward arguments for locating the retinal alteration at the level of the retinal pigment epithelium and suggest that the hair disorder could be a Marie-Unna type hypotrichosis. This association is transmitted as an autosomal recessive condition.

Adult

A gene for late-onset fundus flavimaculatus with macular dystrophy maps to chromosome 1p13.

Fundus flavimaculatus with macular dystrophy is an autosomal recessive disease responsible for a progressive loss of visual acuity in adulthood, with pigmentary changes of the macula, perimacular flecks, and atrophy of the retinal pigmentary epithelium. Since this condition shares several clinical features with Stargardt disease, which has been mapped to chromosome 1p21-p13, we tested the disease for linkage to chromosome 1p. We report here the mapping of the disease locus to chromosome 1p13-p21, in the genetic interval defined by loci D1S435 and D1S415, in four multiplex families (maximum lod score 4.79 at recombination fraction 0 for probe AFM217zb2 at locus D1S435). Thus, despite differences in the age at onset, clinical course, and severity, fundus flavimaculatus with macular dystrophy and Stargardt disease are probably allelic disorders. This result supports the view that allelic mutations produce a continuum of macular dystrophies, with onset in early childhood to late adulthood.

Alleles

Ophthalmology in Europe in the days of the French Revolution.

The authors highlight the political and scientific landmarks in 18th century France; the Revolution of 1789 had positive effects, in that it marked the accession of the French middle-class to political power and enabled the promotion of young scientists without consideration of social class or fortune; it had negative effects, in that France lost the scientific edge it had gained when all existing chairs in ophthalmology were abolished. The status of ophthalmology and of physiological optics in the 18th century are discussed, with a brief mention of the most important innovators in the field.

Europe

[A royal ophthalmologist: Carl Theodor, Duke in Bavaria (1839-1090)].

History reveals that doctor Carl Theodor, Duke in Bavaria, was an exceptional man in many ways if we consider his professional qualities and his sense of responsibilities. Thoroughly humane, and desirous of living very close to his contemporaries, he had to overcome numerous obstacles which hampered his medical destiny. His humanitarian achievements are important and may have influenced his daughter, Her Majesty Queen Elizabeth, and developed her passion for healthcare concerning injured and sick persons. His scientific work, undertaken with prestigious masters in Vienna, Switzerland or Germany, reveals a searcher who always manifested a permanent concern for perfection in the accomplishment of his task.

Germany

Choroidal vascular ischaemia.

The term 'choroidal vascular ischaemia' refers to all the choroido-retinal changes which follow an acute or chronic circulatory disorder in the arterial capillary or venous network of the choroid. However, different clinical syndromes can be observed according to the type of vessel which is occluded, the origin and rate of development of the process. Experimentation on animals, especially on monkeys and observations on those with limited retinal pigmentation has enabled us to study the anatomy of the choroidal circulation and the changes found in choroidal vascular ischaemia following capillary embolism or thrombosis after laser. These experiments have been accompanied by histochemical, bioelectrical and genetic examination. For the past 20 years, angiography has been used to study the choroidal circulation, although only cardiogreen and fluorescein have proved useful.

Choroid

[Evolution of the conceptualization of diabetic retinopathy].

The latest studies on diabetic retinopathy reveal important clinical and therapeutic advances. From a clinical point of view, diverse methods of examination have enabled to study the primary damages of the pigmentary epithelium in cases of diabetic retinopathy in the young at the age of puberty and post-puberty. Moreover, neuro-functional exploration discloses the visual alterations which could not be objectified with classical methods of examination. The study of the circulation in different ocular tissues gives evidence of important facts concerning the evolution of the disease. The comparison of fluorescein angiography with other techniques of in-vivo injection has demonstrated the existence of a retino-choroidopathy with a particular pattern. Indications for pan-retinal coagulation and photo-coagulations can be better defined. Insulin pumps or combined pancreatic and kidney transplantation may contribute to achieve the glycemic balance but they do not solve the problem of diabetic retinopathy at an advanced stage. Other general therapies which are intended to improve the circulation of the hematological or immunological data have not yet proved to be effective in serious cases of retinopathy. Providing the latest research findings to ophthalmologists, primary care physicians and allied health professionals is the first priority in order to significantly reduce blindness due to diabetes by the year 2000.

Diabetic Retinopathy

[History of photosurgery of the eye].

Survey of the development of heliocautery from Antiquity to the 18th century. In art, photocoagulatin of a human eye (in order to destruct it) is, for the first time, represented in 1817 by Hieronymus Hess of Basel. A full account is given of (a) Wilhelm Werneck's therapeutic coagulations (1835): rupturing of cataract by focussed light (sun, phosphorus); (b) Maximilian Adolf Langenbeck's "insolation" of corneal, pupillary and retinal lesions and of traumatic cataract (1859); (c) Vinzenz Czerny's coagulation experiments on the retina of various animals (1867, 1882). J. Morón-Salas was the first to try photocoagulation of retinal tears (1946), but the actual initiator of modern ophthalmic photocoagulation therapy is Gerhard Meyer-Schwickerath (1949).

Animals

[Eye and light].

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Biophysical Phenomena