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Crystalline Dystrophy

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Novel eye genes systematically discovered through an integrated analysis of mouse transcriptomes and phenome.

Chia-Yin Chiang, Yung-Hao Ching, Ting-Yan Chang, Liang-Shuan Hu, Yee Siang Yong, Pei Ying Keak, Ivana Mustika, Ming-Der Lin, Ben-Yang Liao,

In the last few decades, reverse genetic and high throughput approaches have been frequently applied to the mouse (Mus musculus) to understand how genes function in tissues/organs and during development in a mammalian system. Despite these efforts, the associated phenotypes for the majority of mouse genes remained to be fully ... Read more >>

Comput Struct Biotechnol J (Computational and structural biotechnology journal)
[2020, 18:73-82]

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DNA aptamers against the DUX4 protein reveal novel therapeutic implications for FSHD.

Christian Klingler, Jon Ashley, Ke Shi, Adeline Stiefvater, Michael Kyba, Michael Sinnreich, Hideki Aihara, Jochen Kinter,

Aberrant expression of the transcription factor double homeobox protein 4 (DUX4) can lead to a number of diseases including facio-scapulo-humeral muscular dystrophy (FSHD), acute lymphoblastic leukemia, and sarcomas. Inhibition of DUX4 may represent a therapeutic strategy for these diseases. By applying Systematic Evolution of Ligands by EXponential Enrichment (SELEX), we ... Read more >>

FASEB J. (FASEB journal : official publication of the Federation of American Societies for Experimental Biology)
[2020, 34(3):4573-4590]

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Effect of Surgical Indication and Preoperative Lens Status on Descemet Membrane Endothelial Keratoplasty Outcomes.

Rénuka S Birbal, Lamis Baydoun, Lisanne Ham, Alina Miron, Korine van Dijk, Isabel Dapena, Martine J Jager, Stefan Böhringer, Silke Oellerich, Gerrit R J Melles,

PURPOSE:To analyze 6-month results of 1000 consecutive Descemet membrane endothelial keratoplasty (DMEK) cases, and to evaluate if outcomes are influenced by surgical indication and preoperative lens status. DESIGN:Retrospective, interventional case series. METHODS:A series of 1000 eyes (738 patients) underwent DMEK mainly for Fuchs endothelial corneal dystrophy (FECD; 85.3%) or bullous ... Read more >>

Am. J. Ophthalmol. (American journal of ophthalmology)
[2020, 212:79-87]

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Schnyder's crystalline corneal dystrophy.

S Handa, A Thakur, D Rajneesh, A Kulshrestha, A Gupta,

QJM (QJM : monthly journal of the Association of Physicians)
[2020, 113(1):66]

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Linear and planar reflection artifacts on swept-source and spectral-domain optical coherence tomography due to hyperreflective crystalline deposits.

Serena Fragiotta, Pedro Fernández-Avellaneda, Mark P Breazzano, Lawrence A Yannuzzi, Christine A Curcio, K Bailey Freund,

PURPOSE:To describe novel spectral-domain (SD) and swept-source (SS) optical coherence tomography (OCT) linear and planar reflection artifacts produced by hyperreflective crystalline deposits (HCD). METHODS:Imaging from 10 eyes with HCD producing linear and planar artifacts on OCT was retrospectively analyzed. All eyes had SD-OCT (Spectralis HRA + OCT, Heidelberg Engineering, Germany) and SS-OCT ... Read more >>

Graefes Arch. Clin. Exp. Ophthalmol. (Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie)
[2020, 258(3):491-501]

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Presence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.

Won Kyung Song, Penny Clouston, Robert E MacLaren,

Background: Bietti crystalline corneoretinal dystrophy (BCD) (OMIM 210370) is a rare autosomal recessive retinal dystrophy typically characterized by multiple intraretinal crystals over the posterior pole of the retina. Degeneration of the retina and sclerosis of the choroidal vessels results in progressive night blindness and central visual field loss.Methods: Detailed ophthalmic ... Read more >>

Ophthalmic Genet. (Ophthalmic genetics)
[2019, 40(5):461-465]

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A case of isolated bilateral cataract following high-voltage electrical injury.

Ankur Yadav, Vishal Katiyar, Prateep Phadikar, Sanjiv Kumar Gupta,

High voltage electric burns can cause various ocular injuries and may manifest in the form of conjunctival hyperemia, corneal opacities, uveitis, miosis, spasm of accommodation, cataract, retinal edema, papilledema, choroidal rupture, chorio-retinal necrosis/atrophy, retinal detachment and optic atrophy. The involvement of crystalline lens exclusively with sparing of other ocular structures ... Read more >>

Oman J Ophthalmol (Oman journal of ophthalmology)
[2020, 13(1):34-36]

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Evaluation of functional outcome and stability of sutureless scleral tunnel fixated IOLs in children with ectopia lentis.

Anju Rastogi, Prateek Kumar, Shweta Dhiman, Manisha Mishra, Kamlesh Anand, Ankita Bhardwaj,

AIM:To evaluate functional outcome of sutureless scleral tunnel intraocular lens (SSTIOL) in children with crystalline lens subluxation of more than 7 clock hours. METHODS:A prospective interventional study was conducted consisting of 45 eyes of 44 children in age group 6-18y having >7 clock hours of lens subluxation who underwent lensectomy-vitrectomy ... Read more >>

Int J Ophthalmol (International journal of ophthalmology)
[2020, 13(1):66-70]

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Crystal structures of fukutin-related protein (FKRP), a ribitol-phosphate transferase related to muscular dystrophy.

Naoyuki Kuwabara, Rieko Imae, Hiroshi Manya, Tomohiro Tanaka, Mamoru Mizuno, Hiroki Tsumoto, Motoi Kanagawa, Kazuhiro Kobayashi, Tatsushi Toda, Toshiya Senda, Tamao Endo, Ryuichi Kato,

α-Dystroglycan (α-DG) is a highly-glycosylated surface membrane protein. Defects in the O-mannosyl glycan of α-DG cause dystroglycanopathy, a group of congenital muscular dystrophies. The core M3 O-mannosyl glycan contains tandem ribitol-phosphate (RboP), a characteristic feature first found in mammals. Fukutin and fukutin-related protein (FKRP), whose mutated genes underlie dystroglycanopathy, sequentially ... Read more >>

Nat Commun (Nature communications)
[2020, 11(1):303]

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Electro-chemotactic stimuli for cell replacement therapy in neurosensory retina.

Maribel Vazquez,

Neural Regen Res (Neural regeneration research)
[2020, 15(3):450-452]

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Unique optical coherence tomographic features in age-related macular degeneration.

Sumit Randhir Singh, Marco Lupidi, Sai Bhakti Mishra, Manuel Paez-Escamilla, Giuseppe Querques, Jay Chhablani,

Age-related macular degeneration is a major cause of blindness worldwide characterized by the presence of drusen and leading to retinal pigment epithelium and outer retinal changes in advanced stages. Approximately 10% of eyes with age-related macular degeneration develop neovascular complications and present with retinal or sub-retinal pigment epithelium exudation, hemorrhage, ... Read more >>

Surv Ophthalmol (Survey of ophthalmology)
[2020, :]

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Mitochondrial disorders and the eye.

Eli Kisilevsky, Paul Freund, Edward Margolin,

Mitochondria are cellular organelles that play a key role in energy metabolism and oxidative phosphorylation. Malfunctioning of mitochondria has been implicated as the cause of many disorders with variable inheritance, heterogeneity of systems involved, and varied phenotype. Metabolically active tissues are more likely to be affected, causing an anatomic and ... Read more >>

Surv Ophthalmol (Survey of ophthalmology)
[2020, 65(3):294-311]

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Bietti crystalline dystrophy and choroidal neovascularization in childhood.

Sabiha Gungor Kobat, Fatih Cem Gul, Elif Yusufoglu,

Int J Ophthalmol (International journal of ophthalmology)
[2019, 12(9):1514-1516]

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Structure of an RNA helix with pyrimidine mismatches and cross-strand stacking.

Eric J Montemayor, Johanna M Virta, Lauren D Hagler, Steven C Zimmerman, Samuel E Butcher,

The structure of a 22-base-pair RNA helix with mismatched pyrimidine base pairs is reported. The helix contains two symmetry-related CUG sequences: a triplet-repeat motif implicated in myotonic dystrophy type 1. The CUG repeat contains a U-U mismatch sandwiched between Watson-Crick pairs. Additionally, the center of the helix contains a dimerized ... Read more >>

Acta Crystallogr F Struct Biol Commun (Acta crystallographica. Section F, Structural biology communications)
[2019, 75(Pt 10):652-656]

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Complications of femtosecond laser-assisted cataract surgery combined with vitrectomy.

Masaomi Kubota, Akira Watanabe, Tomoyuki Watanabe, Hideo Kono, Takaaki Hayashi, Tadashi Nakano,

PURPOSE:To evaluate the safety of femtosecond laser-assisted cataract surgery (FLACS) combined with 25- or 27-gauge vitrectomy. METHODS:This retrospective study included patients who underwent FLACS combined with 25- or 27-gauge vitrectomy at the Jikei University School of Medicine in Tokyo, Japan, between August 2016 and April 2018 and were followed up ... Read more >>

Int Ophthalmol (International ophthalmology)
[2020, :]

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Outer retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.

Koushik Tripathy, Barsha Sarma, Shahana Mazumdar,

A 47-year-old lady (index case) with diabetes and deafness showed multiple oval circumferential areas of perifoveal atrophy in both eyes. Autofluorescence revealed areas of hypoautofluorescence. Optical coherence tomography (OCT) showed depression of inner retinal surface, inner retinal hyporeflective spaces (pseudocysts), disorganization/thinning of outer retina, outer retinal tubulation, loss of external ... Read more >>

Indian J Ophthalmol (Indian journal of ophthalmology)
[2020, 68(1):250-253]

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A modified intrascleral intraocular lens fixation technique with fewer anterior segment manipulations: 27-gauge needle-guided procedure with built-in 8-0 absorbable sutures.

Yuan Yang, Teng-Teng Yao, Ya-Li Zhou, Yi-Xiao Wang, Zhao-Yang Wang,

BACKGROUND:To report a modified surgical technique for intrascleral intraocular lens (IOL) fixation with fewer anterior segment manipulations in eyes lacking sufficient capsular support. METHODS:Eyes from 14 patients who underwent 27-gauge needle-guided intrascleral IOL fixation with built-in 8-0 absorbable sutures were studied. The 8-0 absorbable sutures were inserted into 27-gauge round ... Read more >>

BMC Ophthalmol (BMC ophthalmology)
[2019, 19(1):234]

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Current perspectives in Bietti crystalline dystrophy.

G P García-García, M Martínez-Rubio, M A Moya-Moya, J J Pérez-Santonja, J Escribano,

Bietti crystalline dystrophy (BCD) is a rare-inherited disease caused by mutations in the CYP4V2 gene and characterized by the presence of multiple shimmering yellow-white deposits in the posterior pole of the retina in association with atrophy of the retinal pigment epithelium (RPE) and chorioretinal atrophy. The additional presence of glittering ... Read more >>

Clin Ophthalmol (Clinical Ophthalmology (Auckland, N.Z.))
[2019, 13:1379-1399]

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Commentary: Dengue hemorrhagic fever: Panophthalmitis or sterile sclerocorneal melt?

Ashok Kumar Grover, Shaloo Bageja, Shilpa Taneja Mittal,

Indian J Ophthalmol (Indian journal of ophthalmology)
[2019, 67(10):1777-1778]

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Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Handong Dan, Xin Huang, Yiqiao Xing, Yin Shen,

BACKGROUND:This study aimed to identify the gene variants and molecular etiologies in 76 unrelated Chinese families with retinitis pigmentosa (RP). METHODS:In total, 76 families with syndromic or nonsyndromic RP, diagnosed on the basis of clinical manifestations, were recruited for this study. Genomic DNA samples from probands were analyzed by targeted ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1131]

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Approaches toward enhancing survival probability following deep anterior lamellar keratoplasty.

Sepehr Feizi, Amir A Azari,

The greatest advantage of deep anterior lamellar keratoplasty over full-thickness corneal transplantation is the elimination of graft failure caused by endothelial rejection. Despite this advantage, a deep anterior lamellar keratoplasty graft can fail because of several factors, such as complications related to the donor–recipient interface, graft epithelial abnormalities, graft vascularization, ... Read more >>

Ther Adv Ophthalmol (Therapeutic advances in ophthalmology)
[2020, 12:]

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Scheimpflug imaging in Christmas tree cataract.

Sonam Yangzes, Surinder Singh Pandav, Jagat Ram,

Indian J Ophthalmol (Indian journal of ophthalmology)
[2019, 67(8):1342]

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Choroidal Vascularity Index: An In-Depth Analysis of This Novel Optical Coherence Tomography Parameter.

Claudio Iovino, Marco Pellegrini, Federico Bernabei, Enrico Borrelli, Riccardo Sacconi, Andrea Govetto, Aldo Vagge, Antonio Di Zazzo, Matteo Forlini, Lucia Finocchio, Adriano Carnevali, Giacinto Triolo, Giuseppe Giannaccare,

Remarkable improvements in optical coherence tomography (OCT) technology have resulted in highly sophisticated, noninvasive machines allowing detailed and advanced morphological evaluation of all retinal and choroidal layers. Postproduction semiautomated imaging analysis with dedicated public-domain software allows precise quantitative analysis of binarized OCT images. In this regard, the choroidal vascularity index ... Read more >>

J Clin Med (Journal of clinical medicine)
[2020, 9(2):]

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A prospective, randomized clinical study comparing accelerated corneal collagen crosslinking with 5% NaCl hypertonic saline for bullous keratopathy in Asian eyes.

Kozue Kasai, Naoko Kato, Seika Den, Kenji Konomi, Megumi Shinzawa, Jun Shimazaki,

BACKGROUND:We compared the clinical outcomes of accelerated corneal collagen crosslinking (CXL) and 5% NaCl hypertonic saline (HS) for the treatment of symptomatic bullous keratopathy (BK). METHODS:A randomized controlled trial was held at Department of Ophthalmology, Tokyo Dental College Ichikawa General Hospital, Chiba, Japan. Twenty-three eyes of 23 consecutive patients with ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(51):e18256]

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Sustained Intraocular Pressure Rise after the Treat and Extend Regimen at 3 Years: Aflibercept versus Ranibizumab.

Alper Bilgic, Laurent Kodjikian, Jay Chhablani, Anand Sudhalkar, Megha Trivedi, Viraj Vasavada, Vaishali Vasavada, Shail Vasavada, Samaresh Srivastava, Deepak Bhojwani, Aditya Sudhalkar,

Purpose:To determine the risk factors associated with sustained intraocular pressure (IOP) rise in patients enrolled in the treat and extend (T&E) protocol receiving aflibercept/ranibizumab therapy for 3 years. Design:Retrospective, observational chart review. Setting. Multicentric. Patients. 789 patients (1021 eyes; 602 males) enrolled in T&E using aflibercept/ranibizumab for diabetic macular edema ... Read more >>

J Ophthalmol (Journal of ophthalmology)
[2020, 2020:7462098]

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