Three Sisters with Familial Corneal Dystrophy
نویسندگان
چکیده
منابع مشابه
Familial Corneal Dystrophy.
The dystrophy is of the nodular or granular type (Duke-Elder, 1938; Francheschetti, Klein, Form.i, and Babel, 1951; Franceschetti, 1954). The cases would appear to fall into the classification of heredo-familial degenerations under the heading of parenchymatous degenerations-a dominant form of granular degeneration. The youngest patient reported by Francheschetti was 5 years old, but in the lat...
متن کامل[A familial case of keratoconus with corneal granular dystrophy].
We report a familial case of keratoconus with corneal granular dystrophy. The mother and first son have both keratoconus and corneal granular dystrophy and the second son has keratoconus alone. The keratoconus in this family is thought to be an autosomal dominant or an X-linked inheritance pattern. Granular dystrophy is an autosomal dominant inheritance. This familial case suggests that the gen...
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Five siblings of a Danish family with slowly progressive involvement of the trigeminal, facial, glossopharyngeal, accessory, and hypoglossal nerves beginning at the age of 55-65 years were examined. All had asymptomatic corneal lattice dystrophy. Clinical and electrophysiological investigations also showed evidence of slight neurogenic involvement of the limbs. Conduction velocity along sensory...
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Macular corneal dystrophy (MCD) is an autosomal recessive hereditary disease. In most cases, various mutations in carbohydrate sulfotransferase 6 (CHST6) gene are the main cause of MCD. These mutations lead to a defect in keratan sulfate synthesis. Retinitis pigmentosa (RP) is another eye disorder with nyctalopia as its common symptom. It has been shown that more than 65 genes have been implica...
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Three sisters with gonadoblastoma and an 46,XY karyotype are presented. This observation suggests that heredity may play an important role in the genesis of the tumour.
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1944
ISSN: 0035-9157
DOI: 10.1177/003591574403800108