Zobrazeno 1 - 10
of 224
pro vyhledávání: '"Bietti crystalline dystrophy"'
Autor:
Chang Shen, Qianjie Yang, Kuangqi Chen, Huiling Ma, Xiawei Wang, Jianping Tong, Ye Shen, Hongguang Cui
Publikováno v:
Cell Communication and Signaling, Vol 22, Iss 1, Pp 1-14 (2024)
Abstract Purpose Bietti crystalline dystrophy (BCD) is an inherited retinal degeneration disease caused by mutations in the CYP4V2 gene. Currently, there is no clinical therapy approach available for BCD patients. Previous research has suggested that
Externí odkaz:
https://doaj.org/article/2562ce7054b042a9a863a1ebe7518535
Publikováno v:
American Journal of Ophthalmology Case Reports, Vol 33, Iss , Pp 101963- (2024)
Objective: To describe the multimodal imaging features, including en face optical coherence tomography (OCT), of Bietti's crystalline dystrophy (BCD). Methods: Wide field fundus photography, autofluorescence (FAF) imaging, and cross sectional and en
Externí odkaz:
https://doaj.org/article/2bff4d74d76b4ae792ebbf0dde731d82
Publikováno v:
Clinical Ophthalmology, Vol Volume 17, Pp 953-967 (2023)
Ali Osman Saatci,1 Ferdane Ataş,2 Gökhan Ozan Çetin,3 Mustafa Kayabaşı1 1Department of Ophthalmology, Dokuz Eylul University, Izmir, Turkey; 2Department of Ophthalmology, Çerkezköy State Hospital, Tekirdağ, Turkey; 3De
Externí odkaz:
https://doaj.org/article/e029489d8642465e8cd6dd08ba27f461
Autor:
Richard Rui Yang
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-19 (2023)
Abstract 300 million people live with at least one of 6,000 rare diseases worldwide. However, rare disease research is not always reviewed with scrutiny, making it susceptible to what the author refers to as nontransparent science. Nontransparent sci
Externí odkaz:
https://doaj.org/article/935b9828060c495fb814c48831572a18
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Bietti crystalline dystrophy is primarily a retinal dystrophy caused by a CYP4V2 mutation and typically presents with crystalline retinal deposits in the posterior fundus. Case presentation We present the case of an otherwise heal
Externí odkaz:
https://doaj.org/article/7ea4b90a020b4f6a8cbe3418c9583934
Publikováno v:
Oman Journal of Ophthalmology, Vol 16, Iss 1, Pp 142-144 (2023)
Bietti crystalline dystrophy is a rare hereditary autosomal recessive disease that causes photoreceptor loss secondary to degeneration of retinal pigment epithelium due to intracellular retinal pigment epithelial crystalline deposits and abnormal lip
Externí odkaz:
https://doaj.org/article/7b3167a6595544fa9eedf5c5a9471be9
Akademický článek
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Akademický článek
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Publikováno v:
Türk Oftalmoloji Dergisi, Vol 52, Iss 3, Pp 212-215 (2022)
A 39-year-old woman with progressive bilateral visual decline was diagnosed as having Bietti crystalline dystrophy in 2008. The disease course was monitored with optical coherence tomography until 2021. During the last routine eye examination in 2021
Externí odkaz:
https://doaj.org/article/49293c71c7b34517aa84964ff588e84f
Publikováno v:
International Journal of Ophthalmology, Vol 15, Iss 6, Pp 940-946 (2022)
AIM: To investigate the clinical characteristics and genetic features of a Bietti crystalline dystrophy (BCD) proband in a Chinese family. METHODS: A Chinese female diagnosed with BCD complicated by bilateral choroidal neovascularization (CNV) and he
Externí odkaz:
https://doaj.org/article/0c7486870bd8401092433e1c5cb19548