cone dystrophy/edema

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Management of acute hydrops with perforation in a patient with keratoconus and cone dystrophy: case report and literature review.

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Prijava / prijava

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.

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Prijava / prijava

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

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Prijava / prijava

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.

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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.

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To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations.Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive examination, including

Rod-cone dystrophy with maculopathy in genetic glutathione synthetase deficiency: a morphologic and electrophysiologic study.

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Prijava / prijava

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.

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Prijava / prijava

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.

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Prijava / prijava

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.

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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.

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Prijava / prijava

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].

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Prijava / prijava

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.

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Prijava / prijava

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.

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Prijava / prijava

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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