Utilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy
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DOI: 10.1097/opx.0000000000001763
Abstract: SIGNIFICANCE Optometrists, as primary eye care providers, encounter patients with rare ocular disease such as Bietti crystalline dystrophy from time to time. Using advanced technologies, which are also useful in managing common ocular conditions, to… read more here.
Keywords: crystalline dystrophy; diagnosis; dystrophy; case ... See more keywords
Multimodal imaging features and genetic findings in Bietti crystalline dystrophy
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DOI: 10.1186/s12886-020-01545-3
Abstract: Background Bietti crystalline dystrophy (BCD) is a distinct entity of retinitis pigmentosa with a wide range of genotypic and phenotypic variabilities. The goal of the present study was to investigate the morphological, functional and genetic… read more here.
Keywords: bcd; crystalline dystrophy; bietti crystalline; imaging features ... See more keywords
A novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization.
Sign Up to like & getrecommendations! Published in 2022 at "International journal of ophthalmology"
DOI: 10.18240/ijo.2022.06.11
Abstract: 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 her… read more here.
Keywords: gene; crystalline dystrophy; bietti crystalline; choroidal neovascularization ... See more keywords
Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy
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DOI: 10.3390/genes12050713
Abstract: The rare form of retinal dystrophy, Bietti crystalline dystrophy, is associated with variations in CYP4V2, a member of the cytochrome P450 family. This study reports patients affected by typical and atypical Bietti crystalline dystrophy, expanding… read more here.
Keywords: phenotype; crystalline dystrophy; bietti crystalline; dystrophy ... See more keywords
A Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury
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DOI: 10.3390/ijms232113108
Abstract: Bietti crystalline corneo-retinal dystrophy (BCD) is an autosomal recessive inherited retinal dystrophy characterized by multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE),… read more here.
Keywords: light induced; dystrophy; bcd; bietti crystalline ... See more keywords
Structural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_2146_21
Abstract: Purpose: Bietti crystalline dystrophy (BCD) is a rare retinal dystrophy, uncommon in Indians. This study describes the various phenotypic features seen in the Indian population. Methods: In this retrospective, descriptive case series, records of patients… read more here.
Keywords: dystrophy; bcd; phenotypic features; crystalline dystrophy ... See more keywords
Asymptomatic Unilateral Full-Thickness Macular Hole in a Patient with Bietti Crystalline Dystrophy During 13-Year Follow-up with Optical Coherence Tomography
Sign Up to like & getrecommendations! Published in 2022 at "Turkish Journal of Ophthalmology"
DOI: 10.4274/tjo.galenos.2022.86681
Abstract: 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… read more here.
Keywords: bietti crystalline; full thickness; crystalline dystrophy; macular hole ... See more keywords