Results 61 to 70 of about 595 (159)

Bietti Crystalline Retinal Dystrophy: A Case Report [PDF]

Journal of Clinical and Experimental Investigations, 2016
Bietti’ crystalline retinal dystrophy (BCD) is a rare, autosomal, recessively inherited disorder, characterized by the deposition of yellow crystals in the corneal limbus and retina. In this paper we aimed to present a pediatric case with BCD, with clinical, electrophysiological and spectral domain optical coherence tomography (SD-OCT) findings and ...
ŞAHİN, Muhammed, YILDIRIM, Adnan, TÜRKCÜ, Fatih Mehmet, YÜKSEL, Harun, ŞAHİN, Alparslan   +4 more
openaire   +2 more sources

Bietti’s Crystalline Dystrophy

, 2020
Bietti’s crystalline dystrophy (BCD) is an autosomal recessive retinal degeneration which was first presented by Bietti in 1937. It's more prevelant in Asian patients with a progressive night blindness and visual field loss. CYP4V2 gene mutation was identified in BCD.
Eugene Yu-Chuan Kang, Nan-Kai Wang
openaire   +1 more source

Multimodal imaging of Bietti's crystalline dystrophy

Indian Journal of Ophthalmology, 2018
Bietti's crystalline dystrophy (BCD) is a rare autosomal recessive retinal dystrophy characterized by deposition of crystals in the retina. The purpose of this article is to describe retinal abnormalities in BCD using multimodal imaging. An 18-year-old girl presented with decrease of vision and nyctalopia.
Vinod Kumar, Amit Gadkar
openaire   +3 more sources

Objective Determination of Retinal Function in Bietti Crystalline Retinopathy

Türk Oftalmoloji Dergisi, 2016
A 44-year-old female patient without any known systemic or ocular disease presented with progressive visual loss and night vision disturbance. Visual acuity was 0.6 in the right eye and 0.2 in the left eye. Tiny, yellow crystalline deposits were seen on
Dorukcan Akıncıoğlu, Ümit Yolcu, Abdullah İlhan   +2 more
doaj   +1 more source

Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort

Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.
This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir, Esra Arslan Ateş, Orkun Sevik, Bengisu Sözer, Tuğba Köse, Özlem Şahin, Ahmet Arman, Bilgen Bilge Geçkinli   +7 more
wiley   +1 more source

The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease

Acta Ophthalmologica, Volume 103, Issue 3, Page 327-338, May 2025.
Abstract Purpose This study aimed to characterize clinical and genetic findings in a Swedish cohort with inherited retinal disease (IRD), identify predictors for achieving a molecular diagnosis and evaluate the effects of increased genetic testing over time.
Karl De Geer, Stefan Löfgren, Anna Lindstrand, Malin Kvarnung, Erik Björck   +4 more
wiley   +1 more source

PRPF3‐Associated Autosomal Dominant Retinitis Pigmentosa and CYP4V2‐Associated Bietti’s Crystalline Corneoretinal Dystrophy Coexist in a Multigenerational Chinese Family

Journal of Ophthalmology, Volume 2017, Issue 1, 2017., 2017
Purpose. To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. Methods. A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected.
Xiaohong Meng, Qiyou Li, Hong Guo, Haiwei Xu, Shiying Li, Zhengqin Yin, Mineo Kondo   +6 more
wiley   +1 more source

Systematic Identification of Candidate Genes for Inherited Retinal Disease Gene Therapy Integrating Worldwide IRD Cohort and Single‐Cell Analysis

Journal of Ophthalmology, Volume 2025, Issue 1, 2025.
Inherited retinal dystrophies (IRDs) constitute a heterogeneous group of primarily monogenic orphan diseases caused by mutations in over 300 genes, collectively affecting millions of individuals worldwide with visual impairment. Despite significant advances, the development of gene replacement therapy for IRDs has predominantly focused on single‐gene ...
Ching-Yun Wang, Lawrence Chen, Ting-Yi Lin, Shun-Ping Huang, Hamid Ahmadieh   +4 more
wiley   +1 more source

Unilateral Crystalline Vitreoretinopathy: A Rare Entity Associated with Intraocular Inflammation

Case Reports in Ophthalmological Medicine, Volume 2015, Issue 1, 2015., 2015
A 31‐year‐old Indian male presented with floaters and diminution of vision in the right eye. Ocular examination showed features of old anterior uveitis with posterior subcapsular cataract and fine, refractile crystals in the vitreous cavity and on the retinal surface.
Kaustubh B. Harshey, Karthik Srinivasan, Ramakrishnan Rengappa, Kim Ramasamy, Stephen G. Schwartz   +4 more
wiley   +1 more source

CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS [PDF]

, 2017
PURPOSE:: To compare atrophy of the choroid and retina between Bietti crystalline dystrophy (BCD) patients and EYS-related retinitis pigmentosa (RP) patients with a similar degree of central visual field defects, age, and axial length (AL).
Morooka, Satoshi, Yoshimura, Nagahisa, Hasegawa, Tomoko, Yamashiro, Kenji, Hata, Masayuki, Sugahara, Masako, Ooto, Sotaro, Miyata, Manabu, Gotoh, Norimoto, Kuroda, Yoshimasa, Ogino, Ken, Hirashima, Takako   +11 more
core   +1 more source