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cone dystrophy/tūska
Saite tiek saglabāta starpliktuvē
13 rezultātiem
Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
OBJECTIVE
To describe a patient with cone dystrophy who presented with acute hydrops and perforation, leading to the diagnosis of keratoconus.
METHODS
Case report and literature review.
RESULTS
A 21 -year-old male patient with a history of cone dystrophy presented with a flat anterior chamber,
Significant macular edema in a patient with cone dystrophy and improvement with acetazolamide treatment.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
OBJECTIVE
To describe a unique presentation and treatment course of a patient with an established diagnosis of cone dystrophy.
METHODS
Clinical examination, spectral domain optical coherence tomography, autofluorescence, fluorescein angiography, and electrophysiology testing were
Novel mutation in SLC4A7 gene causing autosomal recessive progressive rod-cone dystrophy
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Background: Recent advances in genetic sequencing techniques have improved the overall diagnostic yield for finding genetic causes for inherited retinal dystrophies (IRD). Rod-cone dystrophy is the most common IRD and is characterized by
A CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
OBJECTIVE
To report a case of choroidal neovascularization (CNV) in a patient with cone dystrophy (CD).
METHODS
Case report.
RESULTS
A 20-year-old woman presented with diminished vision in her right eye. Fundus examination showed perifoveal retinal pigment epithelial changes and retinal hemorrhage
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
OBJECTIVE
To describe the retinal findings in 2 young adults with glutathione synthetase (GS) deficiency, an autosomal-recessive inborn error of glutathione (GSH) metabolism.
METHODS
Report of 2 cases.
METHODS
Binocular study in 2 affected siblings.
METHODS
Two sisters with severe GS deficiency
Acupuncture benefits for Flammer syndrome in individuals with inherited diseases of the retina.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
BACKGROUND
Patients with inherited diseases of the retina (IRD) often exhibit signs and symptoms of Flammer syndrome (FS). Acupuncture treatment has shown its positive effect on visual function in patients with IRD. The aim of the present study is to examine the effect of acupuncture on signs and
The unusual association of inverse retinitis pigmentosa and Fuchs' heterochromic iridocyclitis.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
BACKGROUND
Classic retinitis pigmentosa (RP) and other syndromic variants have previously been associated to Fuchs' heterochromic iridocyclitis (FHI). Common immunogenic and inflammatory pathways have been proposed to explain the higher incidence of this uveitic phenomenon in patients with retinal
Distribution of pigment epithelium autofluorescence in retinal disease state recorded in vivo and its change over time.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
BACKGROUND
Recently a technique of imaging the retinal pigment epithelium (RPE) has been developed that takes advantages of its intrinsic fluorescence derived from lipofuscin. The purpose of this study was to document the distribution of fundus autofluorescence in patients with various retinal
Outer retina analysis by optical coherence tomography in cone-rod dystrophy patients.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
OBJECTIVE
To analyze the outer retinal layers using spectral domain optical coherence tomography (SD-OCT) in patients with cone-rod dystrophy.
METHODS
The diagnosis of cone-rod dystrophy was determined by primary cone involvement or concomitant loss of both cones and rods. Electroretinography showed
[Macular diseases--application of automated static perimetry and optical coherence tomography].
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
The usefulness of automated static perimetry and optical coherence tomography in the management of macular diseases has been described. Scotomata in eyes with central serous chorioretinopathy could be evaluated with central 10-degree automated static perimetry. The degree of visual field defects in
Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
UNASSIGNED
Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early
Retinitis pigmentosa.
Rakstu tulkošanu var veikt tikai reģistrēti lietotāji
Ielogoties Reģistrēties
Retinitis pigmentosa (RP) is an inherited retinal dystrophy caused by the loss of photoreceptors and characterized by retinal pigment deposits visible on fundus examination. Prevalence of non syndromic RP is approximately 1/4,000. The most common form of RP is a rod-cone dystrophy, in which the
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