[Stargardt's incipient flavimaculatus disease (apropos of 2 cases of pure fundus flavimaculatus)].
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Biomedical subjects
Publications and source records attributed to P Turut.
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Macular vitelliform degeneration is an hereditary affection, with autosomal dominan transmission. It is probably congenital. Three phases in the evolution of lesions: I The "fried eggs" aspect. II Various ophthalmologic aspects: mixed egg, pseudo-hypopion, retractile form. During these first two phases, the yellowish vitelline substance only may extend in macular region, especially downards. III The atrophic phase. Visula acuity remains strangely good, especially during the first two phases. Nevertheless, the visual function study, especially colour vision and profile perimetry, elecites a precocious suffereance of macular cones, associated to fluorographic alteration of pigmentary epithelium in phases II and III. Actually, these lesions are mostly situated in perifoveolar area, respecting the foveola, which explains conservation of good vision. The electro-oculogram is deeply modified in most cases. The pathogenesis of this affection remains unexplained, but the evolution of lesions both in pigmentary epithelium and neuro-epithelium enables to think that vitellin substance lays between these two layers.
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Authors present two cases of typical macular "bull's eyes" other APS treatment with subnormal electric answer. They evocate the poor sensibility of the different methods used to detect and follow these patients and propose a more sensible, easier and test accepted test: static perimetry within the 12 central degrees, once or twice a year.
The peroperative keratoscopy is a subjective method with approximates results (error of 30% on medium power of astigmatisme postoperative). Its advantages with regard to peroperative keratometry are its simplicity, quickness, non-expansivity and efficiency.
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X-shaped macular dystrophy with flavimaculatus flecks is individualized of other heredo-macular dystrophies. This aspect was showed in two families with a retinal pigment epithelial dystrophy characterised by an X-shaped yellowish macular lesion and numerus flavimaculatus retinal flecks. Nine members were variously affected. The condition was bilateral, had a dominant inheritance, started in middle age with a slow-developing macular lesion. Visual functions were often minimally disturbed for two or three decades. Relations with others here-domacular dystrophy are discussed particularly with pattern dystrophy.
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Many features allow to assert that Stargardt disease and fundus flavimaculatus are the one and same disease: clinically and functionally, macular and perimacular lesions present an absolute identity "Pure" fundus flavimaculatus does not exist the two affections can be found in a same pedigree (5 cases) a patient presenting one of these diseases can develop a more complete form (7 cases). The disease is usually and more often inherited as an autosomal recessive than an autosomal dominant fashion (5 cases out of 96 genealogies) with variable expressivity particularly for "flavimacular" lesions. The frequency of the disease is 1/6,670 inhabitants. There are two genes or more in charge of the disease.
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