Results 101 to 110 of about 595 (159)

Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy. [PDF]

Indian J Ophthalmol, 2022
Ratra D, Chattree S, Raviselvan M, Pradhan A, Giridhar S.   +4 more
europepmc   +1 more source

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

, 2020
Purpose: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder caused by mutation of the cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2) gene and characterized by retinal pigmentary abnormalities and scattered deposits ...
André Mégarbané, Sandra Corbani, Eliane Chouery, Maya N Nour, Riad Bejjani, Ziad Khoueir, Haddad, Naji Waked   +7 more
core  

An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy. [PDF]

Transl Vis Sci Technol, 2023
Hanany M, Yang RR, Lam CM, Beryozkin A, Sundaresan Y, Sharon D.   +5 more
europepmc   +1 more source

A case of Bietti crystalline dystrophy with clinical, electrophysiological, and imaging findings. [PDF]

North Clin Istanb, 2021
Garli M, Kurna SA.
europepmc   +1 more source

Accumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway. [PDF]

Invest Ophthalmol Vis Sci, 2022
Gao P, Jia D, Li P, Huang Y, Hu H, Sun K, Lv Y, Chen X, Han Y, Zhang Z, Ren X, Wang Q, Liu F, Tang Z, Liu M.   +14 more
europepmc   +1 more source

Fundus Autofluorescence as a Sensitive Biomarker of Disease Progression in Bietti Crystalline Dystrophy. [PDF]

Ophthalmol Sci
Zhao H, Fukushima M, Hisai T, Tao Y, Shimokawa S, Yamamoto K, Koyanagi Y, Sonoda KH, Hayashi T, Ueno S, Miyata M, Fujinami K, Tsunoda K, Oishi A, Murakami Y.   +14 more
europepmc   +1 more source

Exploration and Application of Multiluminance Mobility Test in Bietti Crystalline Dystrophy. [PDF]

Transl Vis Sci Technol
Chen Y, Wu N, Meng X, Long Y, Ren J, Wang Y, Liu X, Liu Y.   +7 more
europepmc   +1 more source

Ischemic Type of Central Vein Occlusion in a Patient With Bietti Crystalline Dystrophy: A Longitudinal Follow-Up of 12 Years. [PDF]

Cureus
Ali H, Kocabey M, Ayhan Z, Caglayan AO, Saatci AO.   +4 more
europepmc   +1 more source

The role of full-field stimulus threshold in evaluating Bietti crystalline dystrophy. [PDF]

Graefes Arch Clin Exp Ophthalmol
Wang J, Luo J, Yin S, Zhang H, Zhao H, Feng Z, Dimopoulos IS, Zhang J, Guan N, Chen J, Li H, Bhari M, Liang C, Zhu J, Wei W.   +14 more
europepmc   +1 more source

Relationship between outer retinal tubulation, retinal volume, and visual field in Bietti crystalline dystrophy. [PDF]

Graefes Arch Clin Exp Ophthalmol
Kishi Y, Ikeda HO, Miyata M, Numa S, Kamei T, Tsujikawa A.   +5 more
europepmc   +1 more source