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Inborn Errors of Metabolism: Bietti Crystalline Dystrophy

Advances in Experimental Medicine and Biology
Bietti crystalline dystrophy (BCD) is an autosomal recessive dystrophy which has been estimated to occur in 1 in 67,000 people; it is more common in people of East Asian descent and presents with night blindness and paracentral scotomas.
Laura A Jenny   +2 more
exaly   +3 more sources

Bietti's Crystalline Dystrophy

Journal of Ophthalmology Clinics and Research, 2021
Bietti's crystalline dystrophy (BCD) is a relatively rare tapetoretinal degeneration with marginal corneal dystrophy characterized by subepithelial corneal crystals at the limbus and intraretinal crystals in the posterior pole with atrophy of the retinal pigment epithelium and choroidal sclerosis caused by a mutation in the ...
Adline Harris, C. S. Sandhya
openaire   +1 more source

Long-Term Follow-Up in Bietti Crystalline Dystrophy

open access: yesEuropean Journal of Ophthalmology, 2007
Purpose To present a long-term follow-up of Bietti crystalline dystrophy. Methods Two brothers are presented including the clinical findings, fluorescein angiography, electrophysiology (electroretinography [ERG], electrooculography [EOG], adaptometry ...
Ahmad M Mansour, C -C Chan
exaly   +2 more sources

Intereye Symmetry in Bietti Crystalline Dystrophy

American Journal of Ophthalmology, 2022
To evaluate anatomic and functional intereye symmetry among individuals with Bietti crystalline dystrophy (BCD) using clinical and multimodal imaging methods, with a focus on the number, area, and distribution of the characteristic retinal crystalline deposits.Observational case series with prospective and retrospective data.Setting: Multicenter ...
Zhengyang Liu   +11 more
openaire   +2 more sources

Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients

open access: yesOphthalmology Retina, 2021
Purpose: To investigate the genotype and long-term clinical phenotype of patients with Bietti crystalline dystrophy (BCD) in Korea and Japan. Design: Retrospective case series.
Yusuke Murakami   +2 more
exaly   +2 more sources

Bietti's Crystalline Dystrophy

Archives of Ophthalmology, 1989
We report the clinical and electrophysiologic findings in three patients with Bietti's crystalline corneal-retinal dystrophy. The initial evaluation in one patient demonstrated diffuse disease involving retinal pigment epithelium and choriocapillaris with severe widespread disturbance of retinal function.
D J, Wilson   +4 more
openaire   +2 more sources

CHOROIDAL FINDINGS IN BIETTI'S CRYSTALLINE DYSTROPHY

RETINAL Cases & Brief Reports, 2014
To describe the choroidal findings in a patient with Bietti's crystalline dystrophy.A 43-year-old woman with Bietti's crystalline dystrophy underwent a complete ophthalmologic examination including enhanced depth imaging spectral domain optical coherence tomography and en face optical coherence tomography.We observed a severe thinning of the choroid ...
Jennyfer, Zerbib   +4 more
openaire   +2 more sources

Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy

open access: yesExperimental Eye Research, 2016
Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. It is caused by a mutation in the CYP4V2 gene.
Liping Yang, Lin Zhao, Huirong Zhang
exaly   +2 more sources

Autofluorescence and OCT features of Bietti's crystalline dystrophy

British Journal of Ophthalmology, 2008
Bietti’s crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration characterised by innumerable glistening intraretinal dots scattered over the fundus. This retinal degeneration was first described in three patients by Bietti in 1937 with crystalline deposits in the retina and limbal cornea.1 Progressive retinal degeneration and ...
A, Ayata   +4 more
openaire   +2 more sources

Spectral OCT Analysis in Bietti Crystalline Dystrophy

European Journal of Ophthalmology, 2010
Purpose. To report the analysis of the cornea and the macular retina using both time domain (TD-OCT) and Fourier domain optical coherence tomography (FD-OCT) in a case of Bietti crystalline dystrophy (BCD). Methods.
David, Gaucher   +4 more
openaire   +2 more sources

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