FAMILIAL MACULAR DEFECTS
نویسندگان
چکیده
منابع مشابه
Familial macular defects.
THE description of individual disorders of the macula by various names has led to confusion. Several familial and hereditary macular diseases have been classified under the title of heredo-macular degeneration. In this category is Best's disease, which is described as a familial congenital macular defect. This is a rare condition, characterized by retention of good central vision and lack of pr...
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THIS report deals with five cases of this condition, four brothers and a sister. The family history originates in the Channel Islands where the maternal. grandfather of the affected persons wais said to have had defective vision for many years, a somewhat inadequate history but interesting notwithstanding. Of this family several branches are still resident in the Channel Islands and the south o...
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A mother and daugher had a life-long history of poor vision and photophobia, bilateral macular colobomata, and retinal pigment epithelial abnormalities; psychoelectrophysiological testing indicated extensive loss of cone or cone-rod function. These cases suggest this is a genetically determined condition unrelated to infection.
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THE familial occurrence of conduction system disturbances has been reported infrequently in medical literature. Morquio, in 1901,1 reported clinical signs of impaired atrioventricular conduction in five boys in a family of eight children. There was no evidence of consanguinity and the defect did not occur in immediate ancestors nor in collateral branches of the family. In 1903, Sir William Osle...
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CASE 1 Colin D. (generation E in Fig. 1), born on 9 September 1958, of non-consanguinous parents, was admitted to the Royal Hospital for Sick Children under the care of Professor R. W. B. Ellis in August 1960 with the complaint that since February of that year he had been increasingly unable to walk. The patient was the result of a full-term spontaneous delivery after an uncomplicated pregnancy...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1958
ISSN: 0007-1161
DOI: 10.1136/bjo.42.10.617