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...
متن کاملFamilial pathologic myopia, corneal dystrophy, and deafness: a new syndrome.
BACKGROUND Numerous syndromes with myopia and hearing loss have been described up to now. We present a family with pathologic myopia, corneal dystrophy, and deafness distinct from these syndromes. CASES Ten patients in the same Turkish family were evaluated by ophthalmologic, audiologic, physical, radiologic, genetic, serologic, and biochemical examinations. OBSERVATIONS Ophthalmic examinat...
متن کاملFamilial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
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...
متن کاملFamilial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene.
PURPOSE Because corneal tissue with familial subepithelial corneal amyloidosis (FSCA; gelatinous drop-like dystrophy of the cornea) contains lactoferrin the possibility that the FSCA gene was the human lactoferrin (hLF) gene was investigated. Due to contradictory published information we also mapped the hLF gene. METHODS We mapped the hLF gene using a genomic clone of the entire hLF gene as a...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1961
ISSN: 0007-1161
DOI: 10.1136/bjo.45.9.621