Results 261 to 270 of about 51,591 (290)
Some of the next articles are maybe not open access.
Patterned Dystrophies of the Retinal Pigment Epithelium
Archives of Ophthalmology, 1977Three varieties of patterned dystrophies of the retinal pigment epithelium have been described in the literature: They are reticular dystrophy, macroreticular dystrophy, and butterfly-shaped pigment dystrophy of the fovea (macula). They are all inherited and are bilateral and symmetric.
R C, Hsieh, B S, Fine, J S, Lyons
openaire +2 more sources
Mosaic pattern of dystrophins in Duchenne muscular dystrophy
Pediatric Neurology, 1990Dystrophin is the gene product affected in Duchenne muscular dystrophy (DMD). Dystrophin is demonstrably absent with immunocytochemical staining and undetectable by western blotting of DMD muscles. We report an isolated 7-year-old girl with DMD. Analysis of the patient's and her mother's DNA, with probes covering the DMD gene, disclosed no deletion. We
N, Tachi +4 more
openaire +2 more sources
Vimentin and cytokeratin pattern in granular corneal dystrophy
Graefe's Archive for Clinical and Experimental Ophthalmology, 1996Corneal granular dystrophy is usually classified as a hereditary stromal disease of the cornea. Some investigations, however, have indicated an epithelial rather than a stromal origin of the granular deposits. In early stages and in recurrences of granular dystrophy after keratoplasty, the deposits are most often found in the upper microlayers of the ...
Wollensak, Gregor, Witschel, Heinrich
openaire +3 more sources
MACULAR PATTERN DYSTROPHY IN PATIENTS WITH DEAFNESS AND DIABETES
Retina, 1997To report the characteristic findings of a macular pattern dystrophy in patients with diabetes and deafness resulting from the mitochondrial point mutation at position 3243 and to expand the clinical spectrum of this condition by describing functional testing results.Four diabetic patients who were referred to the eye department for diabetic fundus ...
C A, Bonte +3 more
openaire +2 more sources
The patterns of spinal deformity in Duchenne muscular dystrophy
The Journal of Bone & Joint Surgery, 1976In a clinical and roentgenographic study of spinal deformities in sixty-two patients in the later stages of Duchenne muscular dystrophy, many patients had marked scoliosis and kyphosis, while others with hyperextended spines had comparatively little scoliosis. Based on an analysis of the data, it is suggested that the development of spinal deformity in
K E, Wilkins, D A, Gibson
openaire +2 more sources
Pattern Dystrophies of the RPE
2012Abstract In this era of molecular ophthalmology, pattern dystrophies primarily refer to RDS/peripherin-related diseases. However, the identification of a second disease-causing locus on chromosome 5 indicates that there must be genotypic heterogeneity for these conditions.
openaire +1 more source
Breathing Pattern Awake and Asleep in Myotonic Dystrophy
Respiration, 2009Because myotonic dystrophy patients show marked irregularities of breathing both awake and asleep, variables related to breathing pattern under both conditions were measured in 11 patients, together with pulmonary function indices, ventilatory CO<sub>2</sub> response and maximal mouth pressures.
C C, Ververs +4 more
openaire +2 more sources
Pattern Dystrophies of the RPE
Abstract Inherited retinal dystrophies (IRDs) are disorders that can cause impaired vision and potential blindness due to progressive death or dysfunction of photoreceptors. IRDs are estimated to occur one case in every 3,000 people, are linked to pathogenic variants in over 270 genes, and have highly variable clinical and diagnostic ...Kevin C. Allan, Alex Yuan
openaire +1 more source
[Unusual associations of pattern dystrophies].
Journal francais d'ophtalmologie, 1985Pattern dystrophies are a group of inherited abnormalities of the macular pigment epithelium. They include reticular, macroreticular and butterfly-wing dystrophies. Several cases of pattern dystrophies associated with other diseases are reported. In one patient with reticular dystrophy of the retinal pigment epithelium this was combined with congenital
G, Lodato, G, Giuffré
openaire +1 more source
Patterned dystrophies of the retinal pigment epithelium: A review
Ophthalmic Paediatrics and Genetics, 1988Pigmentations and depigmentations, accompanied or not by yellow subretinal lipofuscin accumulations, are the ophthalmologically visible manifestations of dystrophies of the retinal pigment epithelium. The pigmentations may or may not become confluent and form concentric, butterfly-shaped or reticular configurations.
openaire +2 more sources